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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
King Faisal Specialist Hospital and Research Centre
2015-03-01
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| Series: | Annals of Saudi Medicine |
| Online Access: | https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2015.170 |