X-linked recessive chondrodysplasia punctata

X-linked recessive chondrodysplasia punctata
Classification and external resources
ICD-10 Q77.3
OMIM 302950
DiseasesDB 34567
GeneReviews Chondrodysplasia Punctata 1, X-Linked Recessive

X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.[1]:500

It has been associated with arylsulfatase E.[2]

See also

References

  1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  2. ^ Nino M, Matos-Miranda C, Maeda M, et al. (April 2008). "Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata". Am. J. Med. Genet. A 146A (8): 997–1008. doi:10.1002/ajmg.a.32159. PMID 18348268.