Barakat syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an extremely rare congenital disorder. Different etiologies are described for the syndrome but the definite pathophysiology remains unclear. Hereby, we present a case of Barakat syndrome who was diagnosed on the basis of clinical and molecular data.

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man fro...

Barakat syndrome, also known as HDR syndrome (hypoparathyroidism, deafness and renal dysplasia), is a rare autosomal dominant disorder, secondary to mutation of the GATA3 gene which is located at chromosome 10p. The GATA3 protein is one of the transcription factors which play an essential role in the embryonic development of the parathyroids, inner ears and kidneys. We report a Chinese patient ...

Abstract. In this work we announce the Maple package conley to compute connection and C-connection matrices. conley is based on our abstract homological algebra package homalg. We emphasize that the notion of braids is irrelevant for the definition and for the computation of such matrices. We introduce the notion of triangles that suffices to state the definition of (C)-connection matrices. The...