Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Salih, Mustafa A ^a   Abu Amero, Khaled K ^a   Alrasheed, Saleh ^a   Alorainy, Ibrahim A ^a   Liu, Lu ^b   McGrath, John A ^c   Van Maldergem, Lionel ^d   Al Fakey, Yasser H ^a   AlSuhaibani, Adel H ^a   Oystreck, Darren T ^a   Bosley, Thomas M ^a,e  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e Division of Female Pelvic Medicine and Reconstructive Surgery   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMYGDALOID NUCLEUS; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; EYE EXAMINATION; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; INDEL MUTATION; INTRON; LIPOID PROTEINOSIS; MALE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SAUDI ARABIA; SCHOOL CHILD; SKIN EXAMINATION; SKIN SCAR; AMINO ACID SUBSTITUTION; BRAIN; CONSANGUINITY; GENE DELETION; GENETICS; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PSYCHOLOGICAL ASPECT;

ECM1 PROTEIN, HUMAN; SCLEROPROTEIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAIN; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; LIPOID PROTEINOSIS OF URBACH AND WIETHE; MALE; MENTAL RETARDATION; MUTATION; MUTATION, MISSENSE; PEDIGREE; SAUDI ARABIA; SEQUENCE DELETION; YOUNG ADULT;

EID: 79951943057     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-31     Document Type: Article

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