Molecular Genetics - Ektodermal Dysplasias --- Center for Human Genetics

Ektodermal Dysplasias

Molecular Genetics - Ektodermal Dysplasias


disease	OMIM disease	gene OMIM (analysis methods¹)	localisation
Ektodermal Dysplasias
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑ e-mail

EEC Syndrome 3	604292	p63	3q27
Ectodermal Dysplasia 1, anhidrotic, hypohidrotic, autosomal dominant	129490	EDAR	2q11-q13
Ectodermal Dysplasia 1, anhidrotic, hypohidrotic, autosomal recessive	224900	EDAR	2q11-q13
Ectodermal Dysplasia 1, anhidrotic, hypohidrotic, X linked	305100	ED1	Xq12-q13.1
Limb-Mammary Syndrome	603543	p63	3q27
Hay-Wells Syndrome (AEC Syndrome)	106260	p63	3q27
Rapp-Hodgkin Syndrome	129400	p63	3q27

Routinely analysis is performed by sequencing, additional methods are indicated as follows:

FISH

Fluorescence in situ Hybridisation

MLPA

3 kb-founder-insertion