7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

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Veröffentlicht in:American journal of medical genetics. Part A 2014-08, Vol.164A (8), p.2133-2135
Hauptverfasser: Rendu, John, Satre, Véronique, Testard, Hervé, Devillard, Francoise, Vieville, Gaëlle, Fauré, Julien, Amblard, Florence, Jouk, Pierre-Simon, Coutton, Charles
Format: Artikel
Sprache:eng
Schlagworte:
Chromosomes, Human, Pair 7
Female
Heart Defects, Congenital - genetics
Humans
Sorting Nexins - genetics
Tetralogy of Fallot - genetics
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container_end_page 2135
container_issue 8
container_start_page 2133
container_title American journal of medical genetics. Part A
container_volume 164A
creator Rendu, John
Satre, Véronique
Testard, Hervé
Devillard, Francoise
Vieville, Gaëlle
Fauré, Julien
Amblard, Florence
Jouk, Pierre-Simon
Coutton, Charles
description © 2014 Wiley Periodicals, Inc.
doi_str_mv 10.1002/ajmg.a.36566
format Article
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source MEDLINE; Wiley Online Library All Journals
subjects Chromosomes, Human, Pair 7
Female
Heart Defects, Congenital - genetics
Humans
Sorting Nexins - genetics
Tetralogy of Fallot - genetics
title 7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot
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