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About 18 results

ALLMedicine™ Adermatoglyphia Center

Research & Reviews  7 results

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two ca...
https://doi.org/10.1111/pde.14512
Pediatric Dermatology; Nieto-Benito LM, Molina-López I et. al.

Jan 25th, 2021 - Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently repo...

Dermatopathia pigmentosa reticularis
https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis

May 1st, 2019 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86920 Definition A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hype...

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ...
https://doi.org/10.1002/ajmg.a.40485
American Journal of Medical Genetics. Part A; Valentin MN, Solomon BD et. al.

Oct 6th, 2018 - Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypo...

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatogly...
https://doi.org/10.1016/j.jpeds.2017.11.011
The Journal of Pediatrics; Chang X, Li D et. al.

Dec 23rd, 2017 - In 1964, Baird described a family with adermatoglyphia, facial milia, and skin fragility. Using whole exome sequencing, genotyping, and Sanger sequencing, we identified a 116-kb heterozygous deletion involving exons 1-9 of SMARCAD1 in descendants ...

Adermatoglyphia
https://rarediseases.info.nih.gov/diseases/12550/adermatoglyphia

May 4th, 2015 - Adermatoglyphia is a rare condition that is characterized by the lack of ridges on the skin of the fingers, toes, palms of the hand and soles of the feet. Because the pattern of these ridges form each person's unique fingerprints, people with this...

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