Curry-Jones Syndrome (CRJS)

Curry-Jones Syndrome(来自ICD-11)
别称:
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development
Corpus Callosum Agenesis-Polysyndactyly Syndrome
Curry-Jones Syndrome, Somatic Mosaic
Crjs
Winter Shortland Temple Syndrome
Curry Jones Syndrome
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Curry-Jones Syndrome, also known as craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development, is related to fibromatosis, gingival, with progressive deafness and polydactyly, preaxial iv. An important gene associated with Curry-Jones Syndrome is SMO (Smoothened, Frizzled Class Receptor). Affiliated tissues include skin and smooth muscle, and related phenotypes are hypertelorism and hypopigmented skin patches
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参考文献
MALACARDS
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Newborn
<1/1000000
1
13
6

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