نتایج جستجو برای: tricho
تعداد نتایج: 157 فیلتر نتایج به سال:
Woolly hair is an uncommon congenital anomaly of the scalp presenting with strongly coiled involving a localized area or covering entire side and occurring in non-black people. Among syndromes woolly hair, most known are Naxos syndrome, Carvajal-Huerta hair/hypotrichosis, ectodermal dysplasia-skin fragility tricho-hepato-enteric syndrome. Case characteristics: herein, we report case autosomal r...
Background Variants in DLX3 cause tricho-dento-osseous syndrome (TDO; MIM accession no. 190320), a systemic condition with hair, nail, and bony changes, taurodontism, amelogenesis imperfecta (AI) inherited an autosomal dominant fashion. Different variants found within this gene are associated different phenotypic presentations. To date, 6 have been reported TDO. The aim of paper is to explore d...
RATIONALE Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She...
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