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WNT10A and Odonto-Onycho-Dermal Dysplasia 

WNT10A and Odonto-Onycho-Dermal Dysplasia
Chapter:
WNT10A and Odonto-Onycho-Dermal Dysplasia
Author(s):

Hala Mégarbané

and André Mégarbané

DOI:
10.1093/med/9780199934522.003.0042
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date: 27 February 2021

The ectodermal dysplasias are a large and complex nosological group of diseases, which have in common anomalies of the hair, teeth, nails, and sweat glands with or without anomalies in other organs and systems. Characterization of 64 genes, 3 chromosomal regions and several signaling pathways involved in about 30% of EDs led to expansion of the classification of EDs into four major functional subgroups based on molecular and biochemical criteria: cell-cell communication and signaling, adhesion, transcription regulation, and development. Mutations in the WNT10A gene located at 2q35 results in a varying clinical spectrum of ectodermal dysplasia. Manifestations range from isolated oligo/hypodontia to more or less severe ectodermal dysplasias, the odonto-onycho-dermal dysplasia, and Schöpf-Schulz-Passarge syndrome.

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