TY - JOUR
T1 - Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait
AU - Tadin-Strapps, M.
AU - Salas-Alanis, J. C.
AU - Moreno, L.
AU - Warburton, D.
AU - Martinez-Mir, A.
AU - Christiano, Angela M.
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2003/5/1
Y1 - 2003/5/1
N2 - We report a large Mexican kindred with a variant form of congenital universal hypertrichosis that is inherited in an apparent X-linked recessive manner. In addition to the generalized hypertrichosis, the affected individuals have dental malformations and deafness. Males are more severely affected than females who exhibit only mild hypertrichosis, but not deafness or dental anomalies. Haplotype analysis in this pedigree revealed linkage to a 13-cM region on chromosome Xq24-q27.1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development.
AB - We report a large Mexican kindred with a variant form of congenital universal hypertrichosis that is inherited in an apparent X-linked recessive manner. In addition to the generalized hypertrichosis, the affected individuals have dental malformations and deafness. Males are more severely affected than females who exhibit only mild hypertrichosis, but not deafness or dental anomalies. Haplotype analysis in this pedigree revealed linkage to a 13-cM region on chromosome Xq24-q27.1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development.
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U2 - 10.1034/j.1399-0004.2003.00069.x
DO - 10.1034/j.1399-0004.2003.00069.x
M3 - Article
SN - 0009-9163
VL - 63
SP - 418
EP - 422
JO - Clinical Genetics
JF - Clinical Genetics
IS - 5
ER -