Clinical and genetic analysis of two Chinese infants with Mabry syndrome

Brain and Development

Volumn 38, Issue 9, 2016, Pages 807-818

  Xue, Jiao ^a   Li, Hui ^a   Zhang, Yuehua ^a   Yang, Zhixian ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Cognitive disability; Hyperphosphatasia; PIGO gene; PIGV gene; Seizures

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; CADHERIN; MANNOSYLTRANSFERASE; MEMBRANE PROTEIN; PCDH19 PROTEIN, HUMAN; PIGO PROTEIN, HUMAN; PIGV PROTEIN, HUMAN;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CARPAL BONE; CASE REPORT; CHILD; CHINESE; CLINICAL ASSESSMENT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISTAL PHALANX; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HYPERPHOSPHATASIA; HYPOPLASIA; INFANT; INGUINAL HERNIA; LARYNX CARTILAGE; MABRY SYNDROME; MALE; METAPHYSIS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PATHOGENICITY; PCDH19 GENE; PHYSICAL EXAMINATION; PIGO GENE; PIGV GENE; PRESCHOOL CHILD; SANGER SEQUENCING; SEIZURE; ABNORMALITIES, MULTIPLE; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CHINA; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; GENETICS; INTELLECTUAL DISABILITY; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PHOSPHORUS METABOLISM DISORDERS;

ABNORMALITIES, MULTIPLE; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CADHERINS; CHINA; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PHOSPHORUS METABOLISM DISORDERS;

EID: 84975155626     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2016.04.008     Document Type: Article

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