American Journal of Medical Genetics · 1998 · 19 citations · 5 references
MedicineDermatologyGeneticsHuman GeneticsCongenital Oral AnomaliesDysplasiaEctodermal DysplasiasGenetic DisordersGenetic SyndromesHair DisordersAnhidrotic Ectodermal DysplasiaAutosomal Recessive InheritanceCongenital Hair DisordersEctodermal Dysplasia SyndromesHidrotic Ectodermal DysplasiaHypohidrotic Ectodermal Dysplasia
We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is raised.
5
N. Freire‐Maia · Human Heredity · 1971 · 136 citations
Ectodermal Dysplasias Revisited
N. Freire‐Maia · Acta geneticae medicae et gemellologiae · 1977 · 93 citations · Full text
Medicine, Dermatology, Pathology +9
Recent Advances in Ectodermal Dysplasias
A Clarke · Journal of Medical Genetics · 1989 · 31 citations · Full text
Autosomal recessive hydrotic ectodermal dysplasia.
K. Fried · Journal of Medical Genetics · 1977 · 31 citations · Full text
Medicine, Genetics, Oral Pathology +14