PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

Clinical Genetics

Volumn 93, Issue 1, 2018, Pages 84-91

  Abdel Hamid, M S ^a   Issa, M Y ^a   Otaify, G A ^a   Abdel Ghafar, S F ^a   Elbendary, H M ^a   Zaki, M S ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

founder mutation; glycosylphosphatidylinositol; hyperphosphatasia; Mabry syndrome; mental retardation; PGAP3 gene

Indexed keywords

ALKALINE PHOSPHATASE; GENOMIC DNA; CELL SURFACE RECEPTOR; PGAP3 PROTEIN, HUMAN;

ARTICLE; BRAIN VENTRICLE DILATATION; CEREBELLUM HYPOPLASIA; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; CONSANGUINITY; CORPUS CALLOSUM; DANDY WALKER SYNDROME; DEVELOPMENTAL DELAY; FACE DYSMORPHIA; FEMALE; FOUNDER EFFECT; GENE; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME; HYPOGONADISM; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LOSS OF FUNCTION MUTATION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PERINATAL PERIOD; PGAP3 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SCHOOL CHILD; SEIZURE; SHORT STATURE; SPEECH DELAY; TOOTH MALFORMATION; DISORDERS OF MINERAL, ELECTROLYTE AND METAL METABOLISM; DNA SEQUENCE; EGYPT; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CONSANGUINITY; EGYPT; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHORUS METABOLISM DISORDERS; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA;

EID: 85026772295     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13033     Document Type: Article

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