Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndrome
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference37 articles.
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3. Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome;Grundmann;Int J Dermatol,2003
4. Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene;Langan;Hum Genet,2004
5. Genetic tylosis with malignancy: a study of a South Indian pedigree;Yesudian;Br J Dermatol,1980
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1. Testicular differentiation in 46,XX DSD: an overview of genetic causes;Frontiers in Endocrinology;2024-04-24
2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19
3. 46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation;BMJ Case Reports;2024-02
4. Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46, XX Sex Reversal;Genetic Syndromes;2024
5. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development;Orphanet Journal of Rare Diseases;2022-07-19
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