1.
Am J Med Genet A
; 191(3): 896-898, 2023 03.
Artículo
en Inglés
| MEDLINE
| ID: mdl-36541401
RESUMEN
Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penetrance), autosomal recessive, and sporadic cases have been reported. In 2016 causative mutations in three genes were identified for uncombable hair syndrome, all with an autosomal recessive inheritance pattern: PADI3, TGM3, and TCHH. In many cases, however, there is still no molecular diagnosis. Here, we describe a case of autosomal recessive uncombable hair syndrome resulting from maternal uniparental disomy of chromosome 1.
Asunto(s)
Enfermedades del Cabello , Disomía Uniparental , Humanos , Disomía Uniparental/genética , Cromosomas Humanos Par 1 , Enfermedades del Cabello/genética , Cabello , Transglutaminasas/genética
2.
J Allergy Clin Immunol Pract
; 10(12): 3323-3324.e1, 2022 Dec.
Artículo
en Inglés
| MEDLINE
| ID: mdl-36184024