Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

doi:10.1002/ajmg.1320380416

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Article

Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

American journal of medical genetics - 15 Mar 1991

Salinas C F, Pai G S, Vera C L, Milutinovic J, Hagerty R, Cooper J D, Cagna D R

Abstract excerpt

Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity...

Topics

Adolescent
Adult
Black People
Central Nervous System
Child
Child, Preschool
Female
Genetic Variation
Humans
Infant
Kidney
Orofaciodigital Syndromes

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