BIDS syndrome
It has been suggested that this article be merged into Trichothiodystrophy. (Discuss) Proposed since March 2013. |
BIDS syndrome |
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BIDS syndrome, also called nonphotosensitive trichothiodystrophy 1 (TTND1), Amish brittle hair brain syndrome and hair-brain syndrome,[1] is an autosomal recessive[2] genodermatosis similar to IBIDS syndrome but without the ichthyosiform changes. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.[3]: 501
It is associated with C7ORF11.[4]
See also
References
- ^ Online Mendelian Inheritance in Man (OMIM): 234050
- ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 984047, please use {{cite journal}} with
|pmid=984047
instead. - ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ Nakabayashi K, Amann D, Ren Y; et al. (2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC 1196401. PMID 15645389.
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