Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. [electronic resource]
- American journal of medical genetics. Part A Sep 2010
- 2230-5 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.33563 doi
Adolescent Adult Chromosomes, Human, X Dwarfism Family Female Growth Disorders--etiology Heterozygote Homeodomain Proteins--genetics Humans Male Monosomy Mosaicism Osteochondrodysplasias--etiology Recurrence Risk Sequence Deletion Short Stature Homeobox Protein Turner Syndrome--genetics Young Adult