MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations-Reference-Cited by-同舟云学术

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MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations

Published:2020-01 Issue:1 Volume:62 Page:115-117
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Sameshima Tomohiro¹²^ORCID,Morisada Naoya³⁴^ORCID,Egawa Tsuyoshi²,Kugo Masaaki²,Iijima Kazumoto⁴

Affiliation:

1. Department of Pediatrics Hyogo Prefectural Awaji Medical Center SumotoHyogoJapan

2. Department of Pediatrics Himeji Red Cross Hospital Himeji Hyogo Japan

3. Department of Clinical Genetics Hyogo Prefectural Kobe Children’s Hospital Chuo‐ku Kobe Japan

4. Department of Pediatrics Kobe University Graduate School of Medicine Chuo‐ku Kobe Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14068

Reference4 articles.

1. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

2. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

3. wANNOVAR: annotating genetic variants for personal genomes via the web

4. Hypoglycaemia represents a clinically significant manifestation of PIK3CA - and CCND2 -associated segmental overgrowth

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1. A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly–Polymicrogyria–Polydactyly–Hydrocephalus Syndrome;DNA and Cell Biology;2024-07-01

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

3. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

4. Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report;Fetal Diagnosis and Therapy;2023-11-26

5. Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature;Cureus;2021-07-03

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