Literature DB >> 21834031

A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.

Oana Moldovan, Raquel Carvalho, Zulmira Jorge, Ana Medeira.   

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Year:  2011        PMID： 21834031     DOI： 10.1002/ajmg.a.34153

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.

Authors:  Alexis Chenouard; Bertrand Isidor; Emma Allain-Launay; Anne Moreau; Marc Le Bideau; Gwenaelle Roussey
Journal:  Eur J Pediatr       Date:  2012-10-05       Impact factor: 3.183

2.  The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

Authors:  Chong Kun Cheon; Gu Hwan Kim; Han Wook Yoo
Journal:  Yonsei Med J       Date:  2015-01       Impact factor: 2.759

3.  A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

Authors:  Gül Yeşiltepe Mutlu; Heves Kırmızıbekmez; Akie Nakamura; Maki Fukami; Şükrü Hatun
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12

4.  HDR syndrome in a Japanese girl with biliary atresia: a case report.

Authors:  Yousuke Higuchi; Kosei Hasegawa; Miho Yamashita; Yousuke Fujii; Hiroyuki Tanaka; Hirokazu Tsukahara
Journal:  BMC Pediatr       Date:  2016-01-22       Impact factor: 2.125
  4 in total

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