A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature.

Alessandro BrancatellaGiovanna MantovaniFrancesca M ElliSimona BorsariClaudio MarcocciFilomena Cetani

Published in: Endocrine (2020)

We report a kindred harboring a large GNAS deletion. A genotype-phenotype correlation was observed in term of severity of tissue ossifications in the siblings but not in the mother.

Keyphrases

case report
preterm infants
genome wide
copy number
early onset
intellectual disability
gestational age
transcription factor
genome wide analysis