A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

American Journal of Medical Genetics, Part A

Volumn 167, Issue 10, 2015, Pages 2470-2473

  Lee, Hane ^a   Nevarez, Lisette ^b   Lachman, Ralph S ^b   Wilcox, William R ^c   Krakow, Deborah ^b,d,e   Cohn, Daniel H ^b,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Departments of Orthopedic Surgery   (United States)

^e Human Genetics   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INOSITOL POLYPHOSPHATE PHOSPHATASE LIKE 1; PHOSPHATASE; UNCLASSIFIED DRUG; INPPL1 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CARTILAGE CELL; CELL DENSITY; CLINICAL FEATURE; CODON; DYSPLASIA; EXOME SEQUENCE; EXON; EXTRACELLULAR MATRIX; FRAMESHIFT MUTATION; GENE LOCUS; GENE SEQUENCE; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INPPL1 GENE; KIDNEY DISEASE; LETTER; MUTATIONAL ANALYSIS; NONHUMAN; OPSISMODYSPLASIA; PHENOTYPE; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; PROTEIN EXPRESSION; RENAL PHOSPHATE WASTING; RESPIRATORY FAILURE; SCHNECKENBECKEN DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; EXOME; FETUS HYDROPS; GENE EXPRESSION; GENETICS; GESTATIONAL AGE; HOMOZYGOTE; MALE; MUTATION; NEWBORN; PATHOLOGY; STILLBIRTH;

EXOME; GENE EXPRESSION; GENETIC LOCI; GESTATIONAL AGE; HOMOZYGOTE; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHOSPHORIC MONOESTER HYDROLASES; STILLBIRTH;

EID: 84941259559     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37173     Document Type: Letter

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