Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
J Pediatr Gastroenterol Nutr
; 60(3): 352-6, 2015 Mar.
Article
em En
| MEDLINE
| ID: mdl-25714577
ABSTRACT
Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the pelvis and lower limbs were a unique and consistent clinical feature of these patients and may aid differential diagnosis of congenital diarrheal disorders. This study expands allelic and phenotypic heterogeneity of syndromic diarrhea/tricho-hepato-enteric syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperpigmentação
/
DNA Helicases
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Diarreia Infantil
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Retardo do Crescimento Fetal
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Doenças do Cabelo
/
Mutação
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Pediatr Gastroenterol Nutr
Ano de publicação:
2015
Tipo de documento:
Article