Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

European Journal of Human Genetics

Volumn 22, Issue 6, 2014, Pages 762-767

  Horn, Denise ^a   Wieczorek, Dagmar ^b   Metcalfe, Kay ^c   Barić, Ivo ^d,e   Paležac, Lidija ^e   Ćuk, Mario ^d,e   Petković Ramadža, Danijela ^d   Krüger, Ulrike ^a   Demuth, Stephanie ^f   Heinritz, Wolfram ^g   Linden, Tobias ^h   Koenig, Jens ^h   Robinson, Peter N ^a   Krawitz, Peter ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c ST MARY S HOSPITAL   (United Kingdom)

^d KBC Zagreb   (Croatia)

^e UNIVERSITY OF ZAGREB   (Croatia)

^f Praxis für Humangenetik Erfurt   (Germany)

^g Praxis Für Humangenetik Cottbus   (Germany)

^h UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

alkaline phosphatase; brachytelephalangy; Hyperphosphatasia; intellectual disability; seizures

Indexed keywords

ALKALINE PHOSPHATASE; GLYCOSYLPHOSPHATIDYLINOSITOL; PROTEIN PIGV; UNCLASSIFIED DRUG; MANNOSYLTRANSFERASE; PIGV PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYTELEPHALANGY; BRAIN MALFORMATION; CHILD; CLEFT LIP PALATE; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DEVELOPMENTAL DISORDER; EXON; FEMALE; HAND MALFORMATION; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HOMOZYGOSITY; HUMAN; HYDRONEPHROSIS; HYPERPHOSPHATASIA MENTAL RETARDATION SYNDROME; INFANT; INTELLECTUAL IMPAIRMENT; INTRON; MABRY SYNDROME; MACROCEPHALY; MALE; MEGAURETER; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN; NUCLEOTIDE SEQUENCE; OBESITY; PHENOTYPE; PRIORITY JOURNAL; RECTUM FISTULA; TONIC CLONIC SEIZURE; VERBAL COMMUNICATION; VESICOURETERAL REFLUX; AMINO ACID SEQUENCE; DISORDERS OF MINERAL, ELECTROLYTE AND METAL METABOLISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PRESCHOOL CHILD; SEQUENCE HOMOLOGY; SYNDROME; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MANNOSYLTRANSFERASES; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHOSPHORUS METABOLISM DISORDERS; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; YOUNG ADULT;

EID: 84901050665     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.241     Document Type: Article

References (7)

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