Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia-Reference-Cited by-同舟云学术

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia

Published:2021-01-24 Issue:2 Volume:38 Page:530-532
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Nieto‐Benito Lula María¹^ORCID,Molina‐López Irene¹,Feito‐Rodríguez Marta²,Martínez‐González Víctor³,Suárez‐Fernández Ricardo¹,Campos‐Dominguez Minia¹⁴⁵^ORCID

Affiliation:

1. Department of Dermatology Hospital General Universitario Gregorio Marañón Madrid Spain

2. Department of Dermatology Hospital Universitario La Paz Madrid Spain

3. INGEMM (Instituto de Genética Médica y Molecular) Hospital Universitario La Paz Madrid Spain

4. Laboratory of Immune‐regulation “Gregorio Marañón” Health Research Institute (IISGM) Madrid Spain

5. Medical School Universidad Complutense de Madrid Madrid Spain

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14512

Reference5 articles.

1. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

2. Mutations inSMARCAD1cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes

3. Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)

4. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia

5. Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome

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1. Dermatología neonatal;EMC - Dermatología;2024-06

2. Basan syndrome in a family from South India: a novel SMARCAD1 variant;Clinical and Experimental Dermatology;2023-11-15

3. Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma;Disease Markers;2022-05-10

4. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03