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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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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

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André Mégarbané, Sayeeda Hana, Stephany El‐hayek, Alicia Gambarini, Mahmoud Taleb Al‐ali, et al.. 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. American Journal of Medical Genetics Part A, Wiley, 2020, 182 (8), pp.1865-1872. ⟨10.1002/ajmg.a.61730⟩. ⟨hal-03147656⟩

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