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Hörstörung bei Barakat Syndrom (Hypoparathyroidismus, Schallempfindungsschwerhörigkeit, Nierendysplasie)

2013
30. Wissenschaftliche Jahrestagung der Deutschen Gesellschaft für Phoniatrie und Pädaudiologie (DGPP)
Pollak-Hainz, A, Bartsch, O, Zechner, U, Keilmann, A +3 more
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A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome

Journal of Child Neurology
Background Kaya-Barakat-Masson syndrome (KABAMAS) is a recently described autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in YIF1B , a gene crucial for trafficking between the endoplasmic reticulum and the ...
Sabire Gokalp +3 more
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Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome.

Archives of Iranian medicine, 2009
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 ...
Gholamhossein, Ranjbar-Omrani +3 more
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Barakat syndrome: A rare cause of primary hypoparathyroidism