Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy. Electronic address: eva.trevisson@unipd.it.
Eva
E
Trevisson
Department of Medicine (DIMED), Surgical Pathology & Cytopathology Unit; University of Padova, Italy.
Kathrin
K
Ludwig
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy.
Alberto
A
Casarin
Laboratory of Hematology-Oncology, Department of Woman and Child Health, University of Padova, Italy.
Annamaria
A
Di Meglio
Pediatrics Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Italy.
Nella Augusta
NA
Greggio
Neuroradiology, University of Salerno, Italy.
Renzo
R
Manara
Molecular Cytogenetics Laboratory, Department of Woman and Child Health, University of Padova, Italy.
Elisabetta
E
Lenzini
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy.
Maurizio
M
Clementi
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy.
Leonardo
L
Salviati
D002648:Child; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D043266:Steryl-Sulfatase / Q000235:genetics*
C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; C584039:STS protein, human; D043266:Steryl-Sulfatase