Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 553-558

  Thompson, Miles D ^a,b   Roscioli, Tony ^c   Marcelis, Carlo ^c   Nezarati, Marjan M ^d,e   Stolte Dijkstra, Irene ^f   Sharom, Frances J ^g   Lu, Peihua ^g   Phillips, John A ^h   Sweeney, Elizabeth ⁱ   Robinson, Peter N ^j   Krawitz, Peter ^j   Yntema, Helger G ^c   Andrade, Danielle M ^a   Brunner, Han G ^b   Cole, David E C ^a,b,k  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

^e NORTH YORK GENERAL HOSPITAL   (Canada)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g UNIVERSITY OF GUELPH   (Canada)

^h VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^j CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^k SUNNYBROOK RESEARCH INSTITUTE   (Canada)

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Author keywords

Alkaline phosphatase; Brachytelephalangy; GPI deficiency disorder; Hyperphosphatasia; Intellectual disability syndrome; Phosphatidylinositol glycan (GPI) anchor; PIGV gene; Seizure

Indexed keywords

ALANINE; ALKALINE PHOSPHATASE; CLONAZEPAM; GLUTAMIC ACID; LEUCINE; PHENYLALANINE; PYRIDOXINE; RUFINAMIDE; VALINE; VALPROIC ACID;

ABDOMINAL DISTENSION; ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONSTIPATION; ENZYME ACTIVE SITE; EXON; FACE DYSMORPHIA; FEMALE; FIBROBLAST CULTURE; GENE; GENE MUTATION; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDRONEPHROSIS; HYPERPHOSPHATASEMIA; INFANT; INTELLECTUAL IMPAIRMENT; MABRY SYNDROME; MUSCLE HYPOTONIA; NAIL HYPOPLASIA; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENOTYPIC VARIATION; PIGV GENE; POLYTHELIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECTUM BIOPSY; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SIBLING; TONIC CLONIC SEIZURE; VOMITING;

FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NERVOUS SYSTEM DISEASES; OSTEITIS DEFORMANS; PHENOTYPE; SEIZURES; SYNDROME;

EID: 84857111900     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35202     Document Type: Article

References (15)

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