SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

Clinical Genetics

Volumn 77, Issue 1, 2010, Pages 86-91

  Hulsebos, T J M ^a   Kenter, S B ^a   Jakobs, M E ^a   Baas, F ^a   Chong, B ^b   Delatycki, M B ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Genetic counseling; Germ line; Mosaicism; Schwannomatosis; SMARCB1

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; SWI SNF RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY B MEMBER 1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22; EXON; FAMILY; GENE DELETION; GENE MUTATION; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRON; MALE; MOSAICISM; MUTANT; NEURILEMOMA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPINAL CORD SURGERY; WILD TYPE;

ADULT; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 22; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MOSAICISM; NEURILEMMOMA; PEDIGREE; RNA SPLICE SITES; TRANSCRIPTION FACTORS;

EID: 73049114864     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01249.x     Document Type: Article

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