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Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Intrauterine Cataract Diagnosis and Follow-up

artículo científico publicado en 2020

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The third family with TAF6-related phenotype: Alazami-Yuan syndrome

artículo científico publicado en 2020

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

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