Laryngoonychocutaneous syndrome

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Laryngoonychocutaneous syndrome
Classification and external resources
OMIM 245660

Shabbir syndrome (also known as "Laryngo–onycho–cutaneous syndrome") is a cutaneous condition inherited in an autosomal recessive fashion.[1]

It was characterized by Shabbir in 1986.[2][3]

It may be associated with LAMA3.[4]

See also[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 712. ISBN 1-4160-2999-0. 
  2. ^ Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 245660
  4. ^ McLean WH, Irvine AD, Hamill KJ, et al. (September 2003). "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Hum. Mol. Genet. 12 (18): 2395–409. doi:10.1093/hmg/ddg234. PMID 12915477.