TCF12 microdeletion in a 72-year-old woman with intellectual disability

American Journal of Medical Genetics, Part A

Volumn 167, Issue 8, 2015, Pages 1897-1901

  Piard, Juliette ^a   Rozé, Virginie ^a   Czorny, Alain ^a   Lenoir, Marion ^a   Valduga, Mylène ^b   Fenwick, Aimée L ^c   Wilkie, Andrew O M ^c   Maldergem, Lionel Van ^a  

^a UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^b UNIVERSITÉ DE LORRAINE   (France)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Craniosynostosis; Dysmorphism; Intellectual disability; Microdeletion; TCF12

Indexed keywords

3' UNTRANSLATED REGION; AGED; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; FACE FRACTURE; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; HEARING AID; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XX; MEDICAL HISTORY; MICRODELETION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OBESITY; PALATE; PANCREATITIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RPPH1 GENE; SEIZURE; SHORT STATURE; SKULL MALFORMATION; TALL STATURE; TCF12 GENE; THREE DIMENSIONAL IMAGING; TURNER SYNDROME; GENETICS;

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; TCF12 PROTEIN, HUMAN;

AGED; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; FEMALE; GENE DELETION; HUMANS; INTELLECTUAL DISABILITY;

EID: 84937969942     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37083     Document Type: Article

References (9)

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