Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature
Author:
Affiliation:
1. Clinical Genetic Service, Department of Health, HKSAR Hong Kong Hong Kong
2. Department of Radiology, Hong Kong Children's Hospital Hong Kong Hong Kong
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61991
Reference11 articles.
1. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene
2. Pseudopapilledema in Kenny‐Caffey syndrome;Beral L.;Journal of Pediatric Ophthalmology and Strabismus,2011
3. Whole Exome Sequencing to Identify Genetic Causes of Short Stature
4. Kenny-Caffey syndrome and microorchidism
5. A recurrent de novoFAM111Amutation causes kenny-caffey syndrome type 2
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1. Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening;The Cleft Palate Craniofacial Journal;2023-06-04
2. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report;World Journal of Clinical Cases;2023-04-06
3. Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome;The Journal of Clinical Endocrinology & Metabolism;2023-03-14
4. Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up;Frontiers in Endocrinology;2023-01-04
5. Functions and evolution of FAM111 serine proteases;Frontiers in Molecular Biosciences;2022-12-15
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