A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The ph...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Clin Case Rep
Päätekijät: Kishi, Haruka, Jojima, Teruo, Kogai, Takahiko, Iijima, Toshie, Ohira, Eriko, Tanuma, Dai, Konno, Sachiyo, Kato, Kanako, Kezuka, Atsumi, Akimoto, Kazumi, Sakumoto, Junko, Hishinuma, Akira, Tomaru, Takuya, Makita, Noriko, Usui, Isao, Aso, Yoshimasa
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2020
Aiheet:
Case Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752573/
https://ncbi.nlm.nih.gov/pubmed/33363791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3186
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