Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. [electronic resource]
Producer: 20101215Description: 2230-5 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Case Reports; Journal Article
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