A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma

Pediatric Blood and Cancer

Volumn 64, Issue 10, 2017, Pages

  Smolle, Maria A ^a   Heitzer, Ellen ^a   Geigl, Jochen B ^a   Al Kaissi, Ali ^b   Liegl Atzwanger, Bernadette ^a   Seidel, Markus G ^a   Holzer, Lukas A ^a   Leithner, Andreas ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b Department of Paediatric   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ABOVE KNEE AMPUTATION; ADULT; ALPHA THALASSEMIA X LINKED INTELLECTUAL DISABILITY SYNDROME; ATRX GENE; CANCER CHEMOTHERAPY; CASE REPORT; DEVELOPMENTAL DELAY; ENDOMETRIUM CANCER; FAMILY HISTORY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; KNEE PAIN; LETTER; MALE; MICROCEPHALY; OSTEOSARCOMA; PHARYNX CANCER; POSTOPERATIVE CARE; PREOPERATIVE CHEMOTHERAPY; PRIORITY JOURNAL; X LINKED MENTAL RETARDATION; YOUNG ADULT; GENETIC ASSOCIATION STUDY; GENETICS;

ATRX PROTEIN, HUMAN; TRANSCRIPTIONAL REGULATOR ATRX;

ADULT; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; OSTEOSARCOMA; X-LINKED NUCLEAR PROTEIN; YOUNG ADULT;

EID: 85016966980     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.26522     Document Type: Letter

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