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Article

New developments in the genetic diagnosis of short stature.

Current opinion in pediatrics - 1 Aug 2018

Jee Youn Hee, Baron Jeffrey, Nilsson Ola

Abstract excerpt

PURPOSE OF REVIEW: Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature. RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29787394
DOI: 10.1097/MOP.0000000000000653
PMCID: PMC7241654

Genes

ACAN
AMMECR1
BMP2
BRCA1
DONSON
FBN1
IHH
NFIX
NPPC
NPR2
PAPPA2
PTPN11
SHOX

Provenance

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