Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

European Journal of Human Genetics

Volumn 23, Issue 5, 2015, Pages 610-615

  Klaassens, Merel ^a,b   Morrogh, Deborah ^b   Rosser, Elisabeth M ^b   Jaffer, Fatima ^c   Vreeburg, Maaike ^a   Bok, Levinus A ^d   Segboer, Tim ^e   Van Belzen, Martine ^e   Quinlivan, Ros M ^c   Kumar, Ajith ^b   Hurst, Jane A ^b   Scott, Richard H ^b,f  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d MÁXIMA MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I X; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; NFIX PROTEIN, HUMAN; NUCLEAR FACTOR I;

ARTICLE; ATAXIA; BODY HEIGHT; CHILD; CLINICAL ARTICLE; FAMILIAL HEMIPLEGIC MIGRAINE; FEEDING DIFFICULTY; FEMALE; FUNNEL CHEST; GENE DELETION; GENE SEQUENCE; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HUMAN; LEARNING DISORDER; MACROCEPHALY; MALAN SYNDROME; MALE; MUSCLE HYPOTONIA; NYSTAGMUS; PALPEBRAL FISSURE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SOTOS SYNDROME; STRABISMUS; VASCULAR DISEASE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MUTATION; SYNDROME;

CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MUTATION; NFI TRANSCRIPTION FACTORS; PHENOTYPE; SEQUENCE DELETION; SOTOS SYNDROME; SYNDROME;

EID: 84928093331     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.162     Document Type: Article

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