Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2-Reference-Cited by-同舟云学术

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Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2

Published:2019-12-12 Issue:3 Volume:182 Page:557-560
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abreu Nicolas J.¹²^ORCID,Koboldt Daniel C.³²,Gastier‐Foster Julie M.³²⁴,Dave‐Wala Ashita³,Flanigan Kevin M.¹²⁵,Waldrop Megan A.¹²⁵^ORCID

Affiliation:

1. The Center for Gene Therapy Columbus Ohio

2. Department of PediatricsThe Ohio State University Columbus Ohio

3. The Institute for Genomic Medicine at Nationwide Children's Hospital Columbus Ohio

4. Department of PathologyThe Ohio State University Columbus Ohio

5. Department of NeurologyThe Ohio State University Columbus Ohio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61452

Reference10 articles.

1. Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

2. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

3. Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency?

4. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

5. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Cited by 5 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. Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1;PLOS ONE;2023-12-28

2. Inborn Errors of Purine Salvage and Catabolism;Metabolites;2023-06-24

3. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia;neurogenetics;2022-11-29

4. Autosomal Recessive Stickler Syndrome;Genes;2022-06-24

5. Metabolic Aspects of Adenosine Functions in the Brain;Frontiers in Pharmacology;2021-05-14

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