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American Journal of Medical Genetics, Part A, 2018
Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in . It is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” sensorineural deafness “D,” and renal disease “R.” The defect is ...
Owen M Rennert, Margarita Raygada
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Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in . It is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” sensorineural deafness “D,” and renal disease “R.” The defect is ...
Owen M Rennert, Margarita Raygada
exaly +3 more sources
A rare cause of hypoparathyroidism: Barakat syndrome
, 2023 Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor ...
Koçyiğit, Esra +5 more
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Overview of Hearing Impairment in Barakat Syndrome
Barakat syndrome, also known as HDR (Hypoparathyroidism, Deafness, Renal disease) syndrome, is a rare, clinically heterogeneous, genetic condition characterized by the triad of hypoparathyroidism, sensorineural hearing loss, and renal disease. It is most frequently associated with a mutation in the gene coding for the GATA3 transcription factor on ...Habib G Zalzal
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Vnitřní lékařství, 2023
Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which frequency is unknown. It is primarily caused by deletion of chromosome 10p14 or mutation of GATA3 gene, located on chromosome 10.
Beáta Arciniegas, Berkešová +1 more
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Barakat syndrome, also known as HDR syndrome, is a clinically heterogenous, autosomal dominant rare genetic disease, which frequency is unknown. It is primarily caused by deletion of chromosome 10p14 or mutation of GATA3 gene, located on chromosome 10.
Beáta Arciniegas, Berkešová +1 more
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Un syndrome de Barakat révélé par une hypoparathyroïdie
Annales d'Endocrinologie, 2021Introduction Le syndrome de Barakat est une entite associant une hypoparathyroidie, une atteinte renale et une hypoacousie neurosensorielle. C’est une pathologie rare dont peu de cas sont decrits dans la litterature. On rapporte un cas illustrant ce syndrome. Observation Une patiente âgee de 45 ans aux antecedents d’hypoacousie depuis le jeune âge,
R. Laamouri +8 more
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YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review
European Journal of Medical Genetics, 2023Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified severe neurodevelopmental disorder characterized by severe global developmental delay, epilepsy, movement disorder, epilepsy, and microcephaly. KABAMAS is caused by bi-allelic variants in the YIF1B gene which encodes a trafficking protein involved in the anterograde traffic from the ...
Aslihan, Sanri +2 more
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Journal of Pediatric Neurology, 2021
AbstractSeveral known genetic causes of sensorineural deafness are associated with dysplasia of inner ear structures, including the cochlea and labyrinth. Here, we present a child with Barakat syndrome and sensorineural hearing loss, found to have multiple inner ear anomalies including partial duplication of the posterior limb of the left lateral ...
Varun Kannan, Brandon Tran
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AbstractSeveral known genetic causes of sensorineural deafness are associated with dysplasia of inner ear structures, including the cochlea and labyrinth. Here, we present a child with Barakat syndrome and sensorineural hearing loss, found to have multiple inner ear anomalies including partial duplication of the posterior limb of the left lateral ...
Varun Kannan, Brandon Tran
openaire +1 more source