Turner syndrome and haploinsufficiency

Andrew R. Zinn; Judith L. Ross

doi:10.1016/S0959-437X(98)80089-0

Turner syndrome and haploinsufficiency

Andrew R. Zinn
, Judith L. Ross

University of Texas Southwestern Medical Center
Thomas Jefferson University

Producción científica › revisión exhaustiva

109 Citas (Scopus)

Resumen

Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.

Idioma original	English
Páginas (desde-hasta)	322-327
Número de páginas	6
Publicación	Current Opinion in Genetics and Development
Volumen	8
N.º	3
DOI	https://doi.org/10.1016/S0959-437X(98)80089-0
Estado	Published - jun 1998
Publicado de forma externa	Sí

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abstract = "Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.",

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AB - Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.

UR - https://www.scopus.com/pages/publications/0032103696

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DO - 10.1016/S0959-437X(98)80089-0

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Turner syndrome and haploinsufficiency

Resumen

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