Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of ...

Source: International Journal of Pediatric Endocrinology - January 25, 2017 Category: Endocrinology Authors: Mary B. Abraham, Dong Li, Dave Tang, Susan M. O ’Connell, Fiona McKenzie, Ee Mun Lim, Hakon Hakonarson, Michael A. Levine and Catherine S. Choong Source Type: research