TY  - GEN
AU  - Reish,Orit
AU  - Huber,Céline
AU  - Altarescu,Gheona
AU  - Chapman-Shimshoni,Daphne
AU  - Levy-Lahad,Ephrat
AU  - Renbaum,Paul
AU  - Mashevich,Maya
AU  - Munnich,Arnold
AU  - Cormier-Daire,Valérie
TI  - Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks
SN  - 1552-4833
PY  - 2010///1215
KW  - Adolescent
KW  - Adult
KW  - Chromosomes, Human, X
KW  - Dwarfism
KW  - Family
KW  - Female
KW  - Growth Disorders
KW  - etiology
KW  - Heterozygote
KW  - Homeodomain Proteins
KW  - genetics
KW  - Humans
KW  - Male
KW  - Monosomy
KW  - Mosaicism
KW  - Osteochondrodysplasias
KW  - Recurrence
KW  - Risk
KW  - Sequence Deletion
KW  - Short Stature Homeobox Protein
KW  - Turner Syndrome
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.33563
ER  -