Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein.
Mastrangelo M et al.
Jaad Case Reports, 2025
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 2025
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Bard AM et al.
American Journal of Medical Genetics. Part A, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB et al.
Clinical Genetics, 2024
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Bard AM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
Hasegawa A et al.
The Journal of Dermatology, 2021
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.
Zamiri M et al.
The British Journal of Dermatology, 2019
Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
Charfeddine C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA et al.
Acta Dermato-venereologica, 2016
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
Pohler E et al.
The British Journal of Dermatology, 2014
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
Furniss M et al.
The Journal of Investigative Dermatology, 2014
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 2014
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H et al.
The Journal of Investigative Dermatology, 2013
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Giehl KA et al.
American Journal of Human Genetics, 2012
AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
Elhaji Y et al.
Journal of Cutaneous Medicine and Surgery, 0