Results 131 to 140 of about 1,792 (188)

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Clin Cosmet Investig Dermatol
Zhuang Y, Zhang R, Li M, Zou Y, Jiang S, Zhang Y, Liu S, Yu B.   +7 more
europepmc   +1 more source

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis, 2021
Körber L, Schneider H, Fleischer N, Maier-Wohlfart S.   +3 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia with hypothyroidism [PDF]

Journal of Medical Genetics, 1990
Michael Baraitser, Michael Pike
openaire   +1 more source

Prenatal sonographic evidence of hypohidrotic ectodermal dysplasia and postnatal genetic testing of a family line of child. [PDF]

Quant Imaging Med Surg
Lin D, Li H, Tian L, Liu L, Zhang J, Wang Y, Zhang J, Su L, Zeng Q, Wu Q.   +9 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia

Journal of the Pediatrics Association of India, 2013
Ratna Yumkham, KoijamSashikumar Singh, NameirakpamAnthopia Devi, WaikhamRabindro Singh   +3 more
openaire   +1 more source

The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant. [PDF]

Heliyon
Wu Y, Sun J, Zhang C, Ma S, Liu Y, Wu X, Gao Q.   +6 more
europepmc   +1 more source

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. [PDF]

BMC Oral Health
Liu Y, Sun J, Zhang C, Wu Y, Ma S, Li X, Wu X, Gao Q.   +7 more
europepmc   +1 more source

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia. [PDF]

Medicine (Baltimore), 2020
Wang X, Zhang Z, Yuan S, Ren J, Qu H, Zhang G, Chen W, Zheng S, Meng L, Bai J, Du Q, Yang D, Shen W.   +12 more
europepmc   +1 more source

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. [PDF]

Ital J Pediatr
Kablan A, Tasdelen E.
europepmc   +1 more source

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study. [PDF]

Orphanet J Rare Dis, 2020
Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, Johnson R, Porte F, Schneider H.   +9 more
europepmc   +1 more source