Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Human Mutation

Volumn 33, Issue 10, 2012, Pages 1429-1434

  Alazami, Anas M ^a   Al Owain, Mohammad ^a   Alzahrani, Fatema ^a   Shuaib, Taghreed ^a   Al Shamrani, Hussain ^a   Al Falki, Yahya H ^b   Al Qahtani, Saleh M ^b   Alsheddi, Tarfa ^a   Colak, Dilek ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

HMGA1; LARP7; NcRNA; Primordial dwarfism; RN7SK

Indexed keywords

CHAPERONE; HIGH MOBILITY GROUP A1A PROTEIN; TRANSCRIPTION ELONGATION FACTOR; UNTRANSLATED RNA;

ARTICLE; CELL LINE; DISEASE ASSOCIATION; DWARFISM; FACE DYSMORPHIA; FACIES; GENE; GENE EXPRESSION; INTELLECTUAL IMPAIRMENT; LARP7 GENE; LOSS OF FUNCTION MUTATION; PRIMORDIAL DWARFISM; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DWARFISM; FACE; FACIES; FEMALE; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY; MUTATION; PEDIGREE; RIBONUCLEOPROTEINS; RNA, UNTRANSLATED; SYNDROME; YOUNG ADULT;

EID: 84866299495     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22175     Document Type: Article

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