Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Subjects

Subjects :

Adolescent
Child
Child, Preschool
DNA Mutational Analysis
Dwarfism, Pituitary metabolism
Dwarfism, Pituitary physiopathology
Female
Homeodomain Proteins genetics
Human Growth Hormone genetics
Humans
LIM-Homeodomain Proteins genetics
Male
Nuclear Proteins genetics
Phenotype
Pituitary Gland growth & development
Prospective Studies
Receptors, Neuropeptide
Receptors, Pituitary Hormone-Regulating Hormone
SOXB1 Transcription Factors genetics
Transcription Factor Pit-1 genetics
Transcription Factors genetics
Young Adult
Zinc Finger Protein Gli2 genetics
Dwarfism, Pituitary genetics
Mutation
Pituitary Gland metabolism

Details

Language :

English

ISSN :

2352-3964

Volume :

36

Database :

MEDLINE

Journal :

EBioMedicine

Publication Type :

Academic Journal

Accession number :

30266296

Full Text :

https://doi.org/10.1016/j.ebiom.2018.09.026