The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye...

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Bibliografiske detaljer
Udgivet i:Ann Saudi Med
Main Authors: Ratbi, Ilham, Lyahyai, Jaber, Kabiri, Meryem, Banouar, Meryem, Zerkaoui, Maria, Barkat, Amina, Sefiani, Abdelaziz
Format: Artigo
Sprog:Inglês
Udgivet: King Faisal Specialist Hospital and Research Centre 2015
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6074128/
https://ncbi.nlm.nih.gov/pubmed/26336027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2015.170
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