Hypoparathyroidism-retardation-dysmorphism syndrome
نویسندگان
چکیده
منابع مشابه
Association of Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRD) with Down syndrome
Hypoparathyroidism-Retardation-Dysmorphism (HRD) syndrome, also known as Sanjad Sakati Syndrome (SSS), is a rare autosomal recessive genetic condition seen in offspring of consanguineous parents of Middle Eastern origin. HRD consists of hypoparathyroidism leading to hypocalcemia and hyperphosphatemia, growth retardation, and characteristic dysmorphic features. This case presents a Saudi baby gi...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2013
ISSN: 0971-6866
DOI: 10.4103/0971-6866.120814