Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenicMYH3mutation

Author:

Hague Jennifer1,Delon Isabelle1,Brugger Kim1,Martin Howard1,Abbs Stephen1,Park Soo-Mi1

Affiliation:

1. Department of Clinical Genetics; Cambridge University Hospitals NHS Foundation Trust; Cambridge United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Recessive form of Freeman-Sheldon's syndrome or ‘whistling face;Alves;J Med Genet,1977

2. Genotype-phenotype relationships in Freeman-Sheldon syndrome;Beck;Am J Med Genet Part A,2014

3. Whistling face (Freeman-Sheldon) syndrome in two siblings;Bekir;Turk J Pediatr,1994

4. Recessive type of Freeman-Sheldon syndrome: Report of two affected siblings [in Portuguese];Carakushansky;J Pediatr (Rio J),2001

5. Autosomal recessive form of whistling face syndrome in sibs;Dallapiccola;Am J Med Genet,1989

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