Growing up with Marshall syndrome: A case report from infancy to age 12.5 years

Growing up with Marshall syndrome: A case report from infancy to age 12.5 years

Marshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of

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Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics. Part A 2024-04, Vol.194 (4), p.e63488-n/a
1. Verfasser: Harris, Susan R.
Format: Artikel
Sprache:eng
Schlagworte:
Cataract
Child
COL11A1 pathogenic variant
Collagen Type XI - deficiency
Craniofacial Abnormalities - genetics
Female
Hearing Loss, Sensorineural - genetics
Humans
longitudinal case report
Marshall syndrome
Mutation
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
Syndrome
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Beschreibung
Zusammenfassung:Marshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.63488