Reish, Orit

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