Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference13 articles.
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2. Hereditary recurrent brachial plexus neuropathy with dysmorphic features;Airaksinen;Acta Neurol Scand,1954
3. Dominantly inherited syndromic blepharophimosis;Bixler;Am J Med Genet,1989
4. Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities;Cunniff;Am J Med Genet,1998
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1. Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene;European Journal of Human Genetics;2019-04-01
2. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation;Clinical Genetics;2018-08-02
3. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling SchilbachâRott syndrome;American Journal of Medical Genetics Part A;2009-12
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