Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

Author:

Pilch Jacek1,Koppolu Agnieszka A.23,Walczak Anna2,Murcia Pienkowski Victor A.23,Biernacka Anna23,Skiba Paweł4,Machnik-Broncel Joanna5,Gasperowicz Piotr2,Kosińska Joanna2,Rydzanicz Małgorzata2,Emich-Widera Ewa1,Płoski Rafał2ORCID

Affiliation:

1. Department of Pediatric Neurology; Medical University of Silesia; Katowice Poland

2. Department of Medical Genetics; Medical University of Warsaw; Warsaw Poland

3. Postgraduate School of Molecular Medicine; Medical University of Warsaw; Warsaw Poland

4. Department of Genetics; Wroclaw Medical University; Wroclaw Poland

5. Department of Diagnostic Imaging; Medical University of Silesia; Katowice Poland

Funder

Narodowe Centrum Nauki

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females;Bain;Am J Hum Genet,2016

2. Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait;Becerra-Solano;Genet Couns,2007

3. Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient;de Carvalho;Am J Med Genet A,2008

4. Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome;Joss;Am J Med Genet,2002

5. Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome;Schilbach;Am J Med Genet,1988

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