:Yemenite deaf-blind hypopigmentation syndrome

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| name = Yemenite deaf-blind hypopigmentation syndrome

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| synonyms = Warburg-Thomsen syndrome

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Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=717 |isbn=978-1-4160-2999-1 }} (not SOX10).{{cite journal |vauthors=Bondurand N, Kuhlbrodt K, Pingault V, etal |title=A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies |journal=Hum. Mol. Genet. |volume=8 |issue=9 |pages=1785–9 |date=September 1999 |pmid=10441344 |doi= 10.1093/hmg/8.9.1785|url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=10441344|doi-access=free |url-access=subscription }}

It was characterized in 1990,{{cite journal |vauthors=Warburg M, Tommerup N, Vestermark S, etal |title=The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome |journal=Ophthalmic Paediatr Genet |volume=11 |issue=3 |pages=201–7 |date=September 1990 |pmid=2280978 |doi= 10.3109/13816819009020980}} after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation."{{cite web | url=http://omim.org/entry/601706 | title=Yemenite deaf-blind hypopigmentation syndrome | publisher=Johns Hopkins University | work=Online Mendelian Inheritance in Man | date=17 March 1997 | access-date=25 January 2014 | author=Lurie, Iosif W. | author2=Victor A. McKusick | name-list-style=amp}} Some sources affirm SOX10 involvement.{{cite journal |vauthors=Lang D, Epstein JA |title=Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer |journal=Hum. Mol. Genet. |volume=12 |issue=8 |pages=937–45 |date=April 2003 |pmid=12668617 |doi= 10.1093/hmg/ddg107|url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668617|doi-access=free }}{{cite book|author1=Alexander M. Holschneider|author2=Prem Puri|title=Hirschsprung's Disease and Allied Disorders|url=https://books.google.com/books?id=qfsjKl-sct4C&pg=PA124|access-date=2 January 2011|date=13 December 2007|publisher=シュプリンガー・ジャパン株式会社|isbn=978-3-540-33934-2|pages=124–}}