Orphanet J Rare Dis
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A
Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized ...
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Source: PubMed
J Cutan Aesthet Surg
Improvement in the Quality of Life of a Patient of Ectodermal Dysplasia with Reconstructive Surgeries.
Deo K, Sharma YK, Shah B, Kothari P, Chavan D, Sitaniya S, Gupta A
Ectodermal dysplasias are a complex group of heterogenous, heritable disorders entailing two or more developmental abnormalities in ectodermal structu ...
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Source: PubMed
Acta Radiol 2020 Jan 30
Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings.
Dusak A, Hafizoglu D, Kilic SS, Yazici Z
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Source: PubMed
Am. J. Med. Genet. A 2020 Jan 25
The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.
Anbouba GM, Carmany EP, Natoli JL
The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and charac ...
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Source: PubMed
Cell Death Dis
Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246.
Aberdam E, Roux LN, Secrétan PH, Boralevi F, Schlatter J, Morice-Picard F, Sol S, Bodemer C, Missero C, Cisternino S, Aberdam D, Hadj-Rabia S
P63 is a major transcription factor regulating skin development and homeostasis. It controls many genes involved in cell proliferation, adhesion, and ...
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Source: PubMed
