Autosomal recessive form of whistling face syndrome in sibs

Author:

Dallapiccola Bruno,Giannotti Aldo,Lembo Antonio,Sagui Luigi

Publisher

Wiley

Subject

Genetics(clinical)

Reference17 articles.

1. Recessive form of Freeman-Sheldon's syndrome or 'whistling face'.

2. (1975): Diagnostic criteria for the whistling face syndrome. In (ed.): “New Chromosomal and Malformation Syndromes.” New York: Stratton International Medical Book Corporation for The National Foundation—March of Dimes. BD: OAS XI (5): 161-168.

3. Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance

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3. Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenicMYH3mutation;American Journal of Medical Genetics Part A;2016-03-21

4. Freeman-Sheldon Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

5. Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review;Journal of Maxillofacial and Oral Surgery;2012-05-17

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