RNF135 mutations are not present in patients with Sotos Syndrome-like features

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 806-808

  Visser, Remco ^a   Koelma, Nynke ^a   Vijfhuizen, Linda ^a   Van der Wielen, Michiel J R ^a   Kant, Sarina G ^a   Breuning, Martijn H ^a   Wit, Jan M ^a   Losekoot, Monique ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

RING FINGER 135 PROTEIN; RING FINGER PROTEIN; UNCLASSIFIED DRUG;

CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENE; EXON; FACE DYSMORPHIA; GENE DELETION; GENE MUTATION; GROWTH DISORDER; HUMAN; LETTER; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SOTOS SYNDROME;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, NEUROFIBROMATOSIS 1; GROWTH DISORDERS; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEARNING DISORDERS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SYNDROME; YOUNG ADULT;

EID: 63749125981     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32694     Document Type: Letter

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