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Quoted phrase not found in phrase index: "Orofaciodigital syndrome type 14"
Page 1
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Georgian Med News. 2018 Dec;(285):47-51.
Georgian Med News. 2018.
PMID: 30702069
At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormalities of the oral cavity, face and fingers is common for all of them, but each syndrome has a specific phenotype or type of inher …
At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormaliti …
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Drury S, Williams H, Trump N, Boustred C; GOSGene; Lench N, Scott RH, Chitty LS.
Drury S, et al.
Prenat Diagn. 2015 Oct;35(10):1010-7. doi: 10.1002/pd.4675. Epub 2015 Sep 11.
Prenat Diagn. 2015.
PMID: 26275891
RESULTS: In 21% (5/24) cases, exome sequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type 2, Freeman-Sheldon syndrome and Baraitser-Winter Syndrome). In a further case, a plausible diagnosis of orofaciodigital …
RESULTS: In 21% (5/24) cases, exome sequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type …
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