Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I

Clin Dysmorphol. 2016 Jul;25(3):106-9. doi: 10.1097/MCD.0000000000000124.

Authors

Luisa Mackenroth¹, Andreas Rump, Peter Lorenz, Evelin Schröck, Andreas Tzschach

Affiliation

¹ aInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University of Dresden bUniversity Center for Rare Diseases, University Clinic Carl Gustav Carus, Dresden cMitteldeutscher Praxisverbund for Human Genetics, Practice in Meerane, Meerane, Germany.

PMID: 27057656
DOI: 10.1097/MCD.0000000000000124

No abstract available

Publication types

Case Reports

MeSH terms

ADAMTS Proteins / genetics*
Alleles
Bone Diseases, Developmental / diagnosis*
Bone Diseases, Developmental / genetics*
DNA Mutational Analysis
Genetic Association Studies*
Genotype
Humans
Infant
Limb Deformities, Congenital / diagnosis*
Limb Deformities, Congenital / genetics*
Male
Mutation*
Phenotype

Substances

ADAMTS Proteins
ADAMTSL2 protein, human

Supplementary concepts

Acromicric dysplasia