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

Author:

Alves A F,Azevedo E S

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference16 articles.

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5. Ektodermale dysplasie vom anhidrotisclien typus. 5 neue beobachtungen;Perabo, F.; Velasco, J.A.; Prader, A.;Helvetica Paediatrica Acta,1956

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2. Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa;Case Reports in Genetics;2017

3. Freeman-Sheldon Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

4. 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

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

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