Laurence Moon Bardet Biedl Syndrome with anaemia
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in...
Gespeichert in:
Veröffentlicht in: | Journal of Ayub Medical College, Abbottabad Abbottabad, 2014-10, Vol.26 (4), p.625-627 |
---|---|
Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 627 |
---|---|
container_issue | 4 |
container_start_page | 625 |
container_title | Journal of Ayub Medical College, Abbottabad |
container_volume | 26 |
creator | Asif, Mariam Aziz, Tariq Altaf, Samer Sattar, Rukhsana Abdul |
description | Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia. |
format | Article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1655257234</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1655257234</sourcerecordid><originalsourceid>FETCH-LOGICAL-p126t-4a123e38e3a403c4e1d6b8a7842607aa0406bc71bdd330186c8aa9e7e48915563</originalsourceid><addsrcrecordid>eNo1j8tKxEAQAOeguOvqL8gcvQR6pueVo7v4gogH9Rw6mRYjeawzCbJ_r-B6qktRUCdirUDborShXInznD8BUGOAM7HS1nmtQa8FVLQkHluWT9M0yi2lyLPcdhx7-XIYY5oGlt_d_CFpJB46uhCn79RnvjxyI97ubl93D0X1fP-4u6mKvdJuLgwpjYyBkQxga1hF1wTywWgHnggMuKb1qokREVRwbSAq2bMJpbLW4UZc_3X3afpaOM_10OWW-55GnpZcK2ettl6j-VWvjurSDBzrfeoGSof6_xJ_AIM2Srg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1655257234</pqid></control><display><type>article</type><title>Laurence Moon Bardet Biedl Syndrome with anaemia</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Asif, Mariam ; Aziz, Tariq ; Altaf, Samer ; Sattar, Rukhsana Abdul</creator><creatorcontrib>Asif, Mariam ; Aziz, Tariq ; Altaf, Samer ; Sattar, Rukhsana Abdul</creatorcontrib><description>Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.</description><identifier>ISSN: 1025-9589</identifier><identifier>PMID: 25672202</identifier><language>eng</language><publisher>Pakistan</publisher><subject>Adolescent ; Ancylostomiasis - complications ; Ancylostomiasis - diagnosis ; Anemia - parasitology ; Bardet-Biedl Syndrome - complications ; Bardet-Biedl Syndrome - diagnosis ; Humans ; Male</subject><ispartof>Journal of Ayub Medical College, Abbottabad, 2014-10, Vol.26 (4), p.625-627</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25672202$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Asif, Mariam</creatorcontrib><creatorcontrib>Aziz, Tariq</creatorcontrib><creatorcontrib>Altaf, Samer</creatorcontrib><creatorcontrib>Sattar, Rukhsana Abdul</creatorcontrib><title>Laurence Moon Bardet Biedl Syndrome with anaemia</title><title>Journal of Ayub Medical College, Abbottabad</title><addtitle>J Ayub Med Coll Abbottabad</addtitle><description>Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.</description><subject>Adolescent</subject><subject>Ancylostomiasis - complications</subject><subject>Ancylostomiasis - diagnosis</subject><subject>Anemia - parasitology</subject><subject>Bardet-Biedl Syndrome - complications</subject><subject>Bardet-Biedl Syndrome - diagnosis</subject><subject>Humans</subject><subject>Male</subject><issn>1025-9589</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j8tKxEAQAOeguOvqL8gcvQR6pueVo7v4gogH9Rw6mRYjeawzCbJ_r-B6qktRUCdirUDborShXInznD8BUGOAM7HS1nmtQa8FVLQkHluWT9M0yi2lyLPcdhx7-XIYY5oGlt_d_CFpJB46uhCn79RnvjxyI97ubl93D0X1fP-4u6mKvdJuLgwpjYyBkQxga1hF1wTywWgHnggMuKb1qokREVRwbSAq2bMJpbLW4UZc_3X3afpaOM_10OWW-55GnpZcK2ettl6j-VWvjurSDBzrfeoGSof6_xJ_AIM2Srg</recordid><startdate>201410</startdate><enddate>201410</enddate><creator>Asif, Mariam</creator><creator>Aziz, Tariq</creator><creator>Altaf, Samer</creator><creator>Sattar, Rukhsana Abdul</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201410</creationdate><title>Laurence Moon Bardet Biedl Syndrome with anaemia</title><author>Asif, Mariam ; Aziz, Tariq ; Altaf, Samer ; Sattar, Rukhsana Abdul</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p126t-4a123e38e3a403c4e1d6b8a7842607aa0406bc71bdd330186c8aa9e7e48915563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Ancylostomiasis - complications</topic><topic>Ancylostomiasis - diagnosis</topic><topic>Anemia - parasitology</topic><topic>Bardet-Biedl Syndrome - complications</topic><topic>Bardet-Biedl Syndrome - diagnosis</topic><topic>Humans</topic><topic>Male</topic><toplevel>online_resources</toplevel><creatorcontrib>Asif, Mariam</creatorcontrib><creatorcontrib>Aziz, Tariq</creatorcontrib><creatorcontrib>Altaf, Samer</creatorcontrib><creatorcontrib>Sattar, Rukhsana Abdul</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of Ayub Medical College, Abbottabad</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Asif, Mariam</au><au>Aziz, Tariq</au><au>Altaf, Samer</au><au>Sattar, Rukhsana Abdul</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Laurence Moon Bardet Biedl Syndrome with anaemia</atitle><jtitle>Journal of Ayub Medical College, Abbottabad</jtitle><addtitle>J Ayub Med Coll Abbottabad</addtitle><date>2014-10</date><risdate>2014</risdate><volume>26</volume><issue>4</issue><spage>625</spage><epage>627</epage><pages>625-627</pages><issn>1025-9589</issn><abstract>Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.</abstract><cop>Pakistan</cop><pmid>25672202</pmid><tpages>3</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1025-9589 |
ispartof | Journal of Ayub Medical College, Abbottabad, 2014-10, Vol.26 (4), p.625-627 |
issn | 1025-9589 |
language | eng |
recordid | cdi_proquest_miscellaneous_1655257234 |
source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
subjects | Adolescent Ancylostomiasis - complications Ancylostomiasis - diagnosis Anemia - parasitology Bardet-Biedl Syndrome - complications Bardet-Biedl Syndrome - diagnosis Humans Male |
title | Laurence Moon Bardet Biedl Syndrome with anaemia |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-17T10%3A00%3A52IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Laurence%20Moon%20Bardet%20Biedl%20Syndrome%20with%20anaemia&rft.jtitle=Journal%20of%20Ayub%20Medical%20College,%20Abbottabad&rft.au=Asif,%20Mariam&rft.date=2014-10&rft.volume=26&rft.issue=4&rft.spage=625&rft.epage=627&rft.pages=625-627&rft.issn=1025-9589&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E1655257234%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1655257234&rft_id=info:pmid/25672202&rfr_iscdi=true |