We have collected the most relevant information on Facio Audio Symphalangism. Open the URLs, which are collected below, and you will find all the info you are interested in.
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/
An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses Genet Couns. 1990;1(2):133-40. Authors R A Pfeiffer 1 , H D Rott, W Angerstein. Affiliation 1 Institut für Humangenetik, Erlangen Nürnberg. PMID: 2080998 Abstract ...
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 …
Now you know Facio Audio Symphalangism
Now that you know Facio Audio Symphalangism, we suggest that you familiarize yourself with information on similar questions.
