Results 1 to 10 of about 16,139 (205)

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. [PDF]

open access: yesHum Genet
Brooks D   +22 more
europepmc   +1 more source

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

open access: yesQuant Imaging Med Surg
Lin D   +9 more
europepmc   +1 more source

Homozygous <i>HOXC13</i> Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability. [PDF]

open access: yesHum Mutat
Clowes V   +9 more
europepmc   +1 more source

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