Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1677-1685

  Tüysüz, Beyhan ^a   Bilguvar, Kaya ^b   Koçer, Naci ^a   Yalçinkaya, Cengiz ^a   Çaǧlayan, Okay ^b   Gül, Ece ^a   Şahin, Sezgin ^a   Çomu, Sinan ^c   Günel, Murat ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Private Practice Pediatric Neurology   (Turkey)

Author keywords

Adaptor protein; AP4B1; AP4M1; Intellectual disability; Spastic tetraplegia

Indexed keywords

PHENOBARBITAL; VALPROIC ACID; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; REPIN1 PROTEIN, HUMAN;

ADOLESCENT; AP4B1 GENE; AP4E1 GENE; AP4M1 GENE; ARTICLE; ATONIC SEIZURE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC TETRAPLEGIA; BRAIN SIZE; BRAIN VENTRICLE DILATATION; CEREBRAL PALSY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DENTATE NUCLEUS; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPTIC STATE; EXOME; FACE DYSMORPHIA; FEBRILE CONVULSION; FEMALE; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HIPPOCAMPUS; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; MISSENSE MUTATION; NEUROIMAGING; NONSENSE MUTATION; ONSET AGE; PATHOLOGICAL LAUGHTER; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SCHOOL CHILD; SPEECH DISORDER; TONIC CLONIC SEIZURE; WHITE MATTER; BRAIN; CASE REPORT; FACIES; GENETICS; HOMOZYGOTE; MALE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; RECESSIVE GENE; SIBLING;

ADOLESCENT; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROIMAGING; PEDIGREE; PHENOTYPE; QUADRIPLEGIA; SIBLINGS;

EID: 84902539225     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36514     Document Type: Article

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