Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait

M. Tadin-Strapps, J. C. Salas-Alanis, L. Moreno, D. Warburton, A. Martinez-Mir, Angela M. Christiano

Resultado de la investigación

16 Citas (Scopus)

Resumen

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.
Idioma originalEnglish
Páginas (desde-hasta)418-422
Número de páginas5
PublicaciónClinical Genetics
DOI
EstadoPublished - 1 may 2003
Publicado de forma externa

    Huella digital

Citar esto

Tadin-Strapps, M., Salas-Alanis, J. C., Moreno, L., Warburton, D., Martinez-Mir, A., & Christiano, A. M. (2003). Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait. Clinical Genetics, 418-422. https://doi.org/10.1034/j.1399-0004.2003.00069.x