PAPSS2mutations cause autosomal recessive brachyolmia-Reference-Cited by-同舟云学术

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PAPSS2mutations cause autosomal recessive brachyolmia

Published:2012-07-11 Issue:8 Volume:49 Page:533-538
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Miyake Noriko,Elcioglu Nursel H,Iida Aritoshi,Isguven Pinar,Dai Jin,Murakami Nobuyuki,Takamura Kazuyuki,Cho Tae-Joon,Kim Ok-Hwa,Hasegawa Tomonobu,Nagai Toshiro,Ohashi Hirofumi,Nishimura Gen,Matsumoto Naomichi,Ikegawa Shiro

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?;Prenatal Diagnosis;2024-05-20

2. Bone Phenotype is Always Present; Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency;Journal of Clinical Research in Pediatric Endocrinology;2023-12-12

3. Markhor-derived Introgression of a Genomic Region EncompassingPAPSS2Confers High-altitude Adaptability in Tibetan Goats;Molecular Biology and Evolution;2022-11-16

4. A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family;Genes;2022-11-11

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