The first case of a non-infertile female patient with Pitt-Hopkins syndrome

Am J Med Genet A. 2019 Nov;179(11):2311-2314. doi: 10.1002/ajmg.a.61325. Epub 2019 Aug 28.

Authors

Haoxian Li^{1

2}, Yanghui Zhang^{1

2}, Wenxian Yu¹, Li Shu^{1

2}, Xiao Mao^{1

2}, Zhengjun Jia¹, Hui Xi^{1

2}, Hua Wang^{1

2}

Affiliations

¹ Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
² NHC Key Laboratory of Birth Defects Research, Prevention and Treatment (Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

PMID: 31464085
DOI: 10.1002/ajmg.a.61325

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Brain / abnormalities
Brain / diagnostic imaging
China
Facies
Female
Fertility / genetics*
Genetic Association Studies / methods
Genetic Predisposition to Disease
Humans
Hyperventilation / diagnosis*
Hyperventilation / genetics*
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Magnetic Resonance Imaging
Phenotype

Supplementary concepts

Pitt-Hopkins syndrome

Grants and funding