Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex
Am J Med Genet A
.
2020 Nov;182(11):2803-2804.
doi: 10.1002/ajmg.a.61811.
Epub 2020 Aug 17.
Authors
Marine Tessarech
1
,
Marie-Claire Malinge
1
,
Virginie Carmignac
2
3
,
Pierre Vabres
2
3
,
Florence Petit
4
Affiliations
1
Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
2
Reference Center for Rare Genetic Skin Diseases (MAGEC)-Mosaics, Dermatology Department, Dijon-Bourgogne University Hospital, Dijon, France.
3
INSERM UMR1231, and Genetics of Development Anomalies Laboratory, Bourgogne-Franche-Comté University, Dijon, France.
4
CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
PMID:
32804443
DOI:
10.1002/ajmg.a.61811
No abstract available
Publication types
Letter
Comment
MeSH terms
Fingers / abnormalities
Humans
Limb Deformities, Congenital*
Tuberous Sclerosis* / diagnosis
Tuberous Sclerosis* / genetics
Supplementary concepts
Megalodactyly