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Molecular Genetics of Facio Audio Symphalangism - Deborah ...
https://grantome.com/grant/NIH/K08-HD001205-01#:~:text=Abstract%20%28taken%20from%20application%29%20Facio-audio-symphalangism%20%28FAS%29%20is%20an,identified%20a%20large%20Hawaiian%20family%20with%20this%20disorder.
The facio-audio-symphalangism syndrome: report of a …
https://pubmed.ncbi.nlm.nih.gov/4028502/
A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.
The facio-audio-symphalangism syndrome: report of a …
https://www.ncbi.nlm.nih.gov/pubmed/4028502
The facio-audio-symphalangism syndrome: report of a case and review of the literature. Hurvitz SA, Goodman RM, Hertz M, Katznelson MB, Sack Y. A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome.
Complex facio-audio-symphalangism syndrome. An …
https://www.ncbi.nlm.nih.gov/pubmed/15658623
Complex facio-audio-symphalangism syndrome. an autosomal recessive type?: This report describes a new case of facio-audio-symphalangism syndrome in a 32-year-old female patient from a consanguineous family. She had a severely mentally retarded and anophthalmic sister. These associations might be coincidental or demonstrate genetic heterogeneity ...
An autosomal dominant facio-audio symphalangism …
https://pubmed.ncbi.nlm.nih.gov/2080998/
A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare. It is noteworthy …
The facio-audio-symphalangism syndrome: report of a case ...
https://www.deepdyve.com/lp/wiley/the-facio-audio-symphalangism-syndrome-report-of-a-case-and-review-of-gAdWHz6793
The facio-audio-symphalangism syndrome: report of a case and review of the literature The facio-audio-symphalangism syndrome: report of a case and review of the literature H urvitz , S. A.; G oodman , R. M.; H ertz , M.; K atznelson , M. B at -M iriam ; S ack , Y. 1985-07-01 00:00:00 A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism …
The facio-audio-symphalangism syndrome in a four ...
https://www.researchgate.net/publication/7964974_The_facio-audio-symphalangism_syndrome_in_a_four_generation_family_with_a_nonsense_mutation_in_the_NOG-gene
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss …
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