title: A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
authors.affiliation: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
authors.forename: Hane
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.
authors.forename: Lisette
authors.initials: L
authors.lastname: Nevarez
authors.affiliation: International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
authors.affiliation: Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, Georgia.
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
authors.affiliation: International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.|Departments of Orthopaedic Surgery, Los Angeles, California.|Human Genetics, Los Angeles, California.|Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, California.
authors.forename: Deborah
authors.initials: D
authors.lastname: Krakow
authors.affiliation: Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.|International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.|Departments of Orthopaedic Surgery, Los Angeles, California.
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Cohn
mesh_terms: D059472:Exome; D015870:Gene Expression; D056426:Genetic Loci; D005865:Gestational Age; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D050497:Stillbirth
chemical_list: D010744:Phosphoric Monoester Hydrolases; C098706:INPPL1 protein, human; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases