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-Reference-Cited by-同舟云学术

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

Published:2020-07-02 Issue:8 Volume:182 Page:1865-1872
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Mégarbané André¹²^ORCID,Hana Sayeeda³,El‐Hayek Stephany³,Gambarini Alicia¹,Al‐Ali Mahmoud Taleb³,Delague Valérie⁴

Affiliation:

1. Institut Jérôme Lejeune Paris France

2. Faculty of Medical SciencesLebanese University Beirut Lebanon

3. Centre for Arab Genomic Studies Dubai UAE

4. Aix Marseille UniversityInserm, MMG Marseille France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61730

Reference26 articles.

1. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

2. A method and server for predicting damaging missense mutations

3. Consanguinity and Dysmorphology in Arabs

4. Congenital Onychodysplasia of the Index Fingers

5. Predicting the Functional Effect of Amino Acid Substitutions and Indels

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