Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.

doi:10.1002/ajmg.a.61991

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Article

Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.

American journal of medical genetics. Part A - 1 Feb 2021

Cheng Shirley S W, Chan Pui Kwan Joyce, Luk Ho-Ming, Mok Myth Tsz-Shun, Lo Ivan F M

Abstract excerpt

Kenny-Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate short stature, long bone abnormalities, delayed closure of anterior fontanelle, eye abnormalities, and normal intelligence. It is caused by variants in FAM111A (NM_001942519.1). In this review, we reported the first Chinese patients, a pair of monozygotic twins, with genetically...

Topics

Abnormalities, Multiple
Adult
China
Dwarfism
Eye Abnormalities
Female
Humans
Hyperostosis, Cortical, Congenital
Hypocalcemia
Male
Middle Aged
Phenotype
Receptors, Virus
Twins

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Open in PubMed

Identifiers

PMID: 33263187
DOI: 10.1002/ajmg.a.61991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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