A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects | Zendy

Boudewijn Bakker | Zendy; Laura Sonneveld | Zendy; M. Claire Woltering | Zendy; Hennie Bikker | Zendy; Sarina G. Kant | Zendy

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A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects

Author(s) -

Boudewijn Bakker,

Laura Sonneveld,

M. Claire Woltering,

Hennie Bikker,

Sarina G. Kant

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2015-2260

Subject(s) - gnas complex locus , pseudohypoparathyroidism , imprinting (psychology) , genomic imprinting , medicine , osteodystrophy , endocrinology , epigenetics , genetics , dna methylation , biology , parathyroid hormone , gene , gene expression , calcium

Several patients with Beckwith-Wiedemann Syndrome (BWS) with multiple imprinting defects found by genetic analysis have been described. However, only two cases have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.

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