Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome

Autor:	Eitan Ben-David, Mordechai Shohat, Michael David, Ben-Zion Garty, Israel Kremer, Arieh Ingber, Sasson Nakar, Emmilia Hodak
Rok vydání:	1992
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Retardation a Late onset Genes Recessive Junctional epidermolysis bullosa (medicine) stomatognathic system Intellectual Disability medicine Humans skin and connective tissue diseases Dystrophic nails Genetics (clinical) Subluxation integumentary system business.industry Tooth Abnormalities Syndrome Lens Subluxation medicine.disease Dermatology Epidermolysis Bullosa Dystrophica stomatognathic diseases Phenotype Nail disease Female Epidermolysis bullosa Age of onset business Epidermolysis Bullosa Junctional
Zdroj:	American journal of medical genetics. 43(5)
ISSN:	0148-7299
Popis:	We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97df93812db914e21c6a7172b332a57 https://pubmed.ncbi.nlm.nih.gov/1642260 Zobrazit plný text záznamu Plný text