Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

被引：0

作者：

Aftab, Sommayya ^{[1
,2
]}

Shaheen, Tahir ^{[1
]}

Anjum, Muhammad Nadeem ^{[3
]}

Imran, Ahmed ^{[4
]}

Saeed, Anjum ^{[3
]}

Qureshi, Abid Ali ^{[4
]}

Cheema, Huma Arshad ^{[3
]}

机构：

[1] Childrens Hosp & Inst Child Hlth, Dept Paediat Endocrinol & Diabet, Lahore, Pakistan

[2] Hameed Latif Hosp, Dept Paediat Endocrinol & Diabet, Lahore, Pakistan

[3] Childrens Hosp & Inst Child Hlth, Dept Paediat Gastroenterol & Hepatol, Lahore, Pakistan

[4] Childrens Hosp & Inst Child Hlth, Dept Paediat Radiol, Lahore, Pakistan

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2021年 / 94卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P2-63

引用

页码：209 / 210

页数：2

共 38 条

[21] A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene
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[22] A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family
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[23] Lifelong deformities in an adult caused by vitamin D-dependent rickets type 1A: A case report
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[24] Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
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JOURNAL OF VETERINARY INTERNAL MEDICINE, 2023, 37 (04) : 1507 - 1513
[25] Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error
Zou, Minjing
Guven, Ayla
BinEssa, Huda A.
Al-Rijjal, Roua A.
Meyer, Brian F.
Alzahrani, Ali S.
Shi, Yufei
FRONTIERS IN GENETICS, 2020, 11
[26] Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1
Yamamoto, K
Uchida, E
Urushino, N
Sakaki, T
Kagawa, N
Sawada, N
Kamakura, M
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Inouye, K
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JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (34) : 30511 - 30516
[27] Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease
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[28] A case of vitamin D dependent rickets type 1a with a novel mutation in the Turkish population
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[29] Molecular Genetic Analysis of Human Vitamin D-Dependent Rickets Type 1(VDDR-1) by Direct Analysis of the CYP40 Gene • 714
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Walter L Miller
Pediatric Research, 1998, 43 (Suppl 4) : 124 - 124
[30] CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C)
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