Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

doi:10.1002/ajmg.1320410403

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Article

Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

American journal of medical genetics - 15 Dec 1991

Bustos T, Simosa V, Pinto-Cisternas J, Abramovits W, Jolay L, Rodriguez L, Fernandez L, Ramela M

Abstract excerpt

We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isola...

Topics

Adolescent
Adult
Aged
Child
Child, Preschool
Consanguinity
Ectodermal Dysplasia
Female
Genes, Recessive
Humans
Infant
Male
Middle Aged
Pedigree
Phenotype
Syndrome
Venezuela

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