Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome
Acta Ophthalmol
.
2017 May;95(3):e250-e252.
doi: 10.1111/aos.13293.
Epub 2016 Nov 23.
Authors
Christina Kamme
1
,
Anja Kathrin Mayer
2
,
Tim M Strom
3
4
,
Sten Andréasson
1
,
Nicole Weisschuh
2
Affiliations
1
Department of Ophthalmology, University Hospital of Lund, Lund, Sweden.
2
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
3
Institute of Human Genetics, Technische Universität München, Munich, Germany.
4
Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
PMID:
27879052
PMCID:
PMC5412861
DOI:
10.1111/aos.13293
No abstract available
Publication types
Letter
MeSH terms
Bardet-Biedl Syndrome / genetics*
Child
Female
Genetic Predisposition to Disease*
Genotype
Humans
Male
Phenotype
Associated data
GENBANK/NM_152384.2
GENBANK/NP_689597.1