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

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Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature.Update on investigations pertaining to the pathogenesis of biliary atresia.

P2860

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P2860

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

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http://www.wikidata.org/entity/Q35901921

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

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2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

@zh-cn

name

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

@ast

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

@en

type

Item

label

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

@ast

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

@en

prefLabel

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

@ast

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

@en

P1476

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

@en

P2093

Hirokazu Tsukahara

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Hiroyuki Tanaka

http://www.w3.org/2001/XMLSchema#string

Miho Yamashita

http://www.w3.org/2001/XMLSchema#string

Yousuke Fujii

http://www.w3.org/2001/XMLSchema#string

Yousuke Higuchi

http://www.w3.org/2001/XMLSchema#string

P2860

HDR syndrome: a novel "de novo" mutation in GATA3 gene

Vitamin D deficiency

Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets.

Clinical practice. Hypoparathyroidism.

Bone disease in infants and children with hepatobiliary disease.

Hypophosphatemia: the common denominator of all rickets.

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

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

P2888

s12887-016-0550-9

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scholarly article

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10.1186/S12887-016-0550-9

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Kosei Hasegawa

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4724082

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

about

P2860

P2860

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

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932