BIDS syndrome

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BIDS syndrome

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

  1. ^ Online Mendelian Inheritance in Man (OMIM): 234050
  2. ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 984047, please use {{cite journal}} with |pmid=984047 instead.
  3. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  4. ^ 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. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)