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Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification
Author(s) -
Newman B,
Wallis GA
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00046.x
Subject(s) - endochondral ossification , ossification , genetic counseling , biology , bone development , medicine , genetics , bioinformatics , cartilage , anatomy , endocrinology
Identification of a number of the genes that cause skeletal dysplasias has helped clinicians to provide accurate diagnoses, genetic counseling, and pre‐natal diagnosis for this complex group of disorders. This review considers how some of the recent advances in human and murine genetics have led to an increased understanding of normal bone development and, in particular, the processes of skeletal patterning and endochondral ossification.