A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

(2021) Hoda A. Ahmed et al.   Genes

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

(2019) María Carmen Martínez-Romero et al.   Orphanet Journal of Rare Diseases

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

A novelEDARADD5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

(2016) Ajay K. Chaudhary et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

(2016) Alessandro Salvi et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

(2016) Sigrun Wohlfart et al.   JOURNAL OF HUMAN GENETICS

A novel missense mutation in the geneEDARADDassociated with an unusual phenotype of hypohidrotic ectodermal dysplasia

(2015) Sigrun Wohlfart et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD

(2015) N Suda et al.   Orthodontics & Craniofacial Research

Partial anhidrosis demonstrated by Q-SART in a patient with a novel mutation in theEDARADDgene

(2014) H. Koguchi-Yoshioka et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Ectodysplasin research—Where to next?

(2014) Sylvie Lefebvre et al.   SEMINARS IN IMMUNOLOGY

Recurrent splice-site mutation in MBTPS2underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient

(2013) H. J. Wang et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

The Second Deletion Mutation in Exon 8 ofEDAGene in an XLHED Pedigree

(2013) Wei Yin et al.   DERMATOLOGY

A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

(2013) Muhammad Farooq et al.   HUMAN MUTATION

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

(2013) Michele Callea et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27)

(2013) A. Schindler et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation

(2013) Takakazu Yoshioka et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

(2013) T. Nikopensius et al.   JOURNAL OF DENTAL RESEARCH

Novel EDA p.Ile260Ser Mutation Linked to Non-syndromic Hypodontia

(2013) Y. Yang et al.   JOURNAL OF DENTAL RESEARCH

Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in theEDAgene

(2013) Ryota Hayashi et al.   JOURNAL OF DERMATOLOGY

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

(2012) T. Kawai et al.   BLOOD

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

(2012) A. Haghighi et al.   BRITISH JOURNAL OF DERMATOLOGY

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family

(2011) Ying Liu et al.   GENE

Development of an Allele-Specific Real-Time PCR Assay for Discrimination and Quantification of p63 R279H Mutation in EEC Syndrome

(2011) Vanessa Barbaro et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia

(2010) Nosheen Bibi et al.   AUSTRALASIAN JOURNAL OF DERMATOLOGY

Mutations inEDARADDaccount for a small proportion of hypohidrotic ectodermal dysplasia cases

(2010) N. Chassaing et al.   BRITISH JOURNAL OF DERMATOLOGY

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

(2010) Céline Cluzeau et al.   HUMAN MUTATION

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome

(2009) Laila Rifai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular aspects of hypohidrotic ectodermal dysplasia

(2009) Marja L. Mikkola   AMERICAN JOURNAL OF MEDICAL GENETICS PART A