Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

André Mégarbané; Sayeeda Hana; Stephany El‐hayek; Alicia Gambarini; Mahmoud Taleb Al‐ali; Valérie Delague

doi:10.1002/ajmg.a.61730

Journal articles

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

André Mégarbané ^{1, 2} Sayeeda Hana ³ Stephany El‐hayek ³ Alicia Gambarini ² Mahmoud Taleb Al‐ali ³ Valérie Delague ⁴

1 LAU - Lebanese American University, School of Medecine, Human Genetics Department,

LAU - Lebanese American University

2 Institut Jérôme Lejeune

3 CAGS - Centre for Arab Genomic Studies

4 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics

Life Sciences [q-bio] / Human health and pathology

Complete list of metadatas

https://hal-amu.archives-ouvertes.fr/hal-03147656
Contributor : Valérie Delague <>
Submitted on : Saturday, February 20, 2021 - 2:30:07 PM
Last modification on : Sunday, February 21, 2021 - 3:09:52 AM

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

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Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

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