A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1196-1201

  Slavotinek, Anne M ^a   Rosenfeld, Jill A ^b,c   Chao, Ryan ^a   Niyazov, Dimitry ^d   Eswara, Marthand ^e   Bader, Patricia I ^f   Stockton, David W ^g   Stankiewicz, Pawel ^h   Adam, Margaret P ⁱ  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b PerkinElmer   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d OCHSNER CLINIC FOUNDATION   (United States)

^e Sutter Medical Center   (United States)

^f Northeast Indiana Genetic Counseling Center   (United States)

^g WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; FUROSEMIDE; SPIRONOLACTONE;

ATAXIA; CALNEURON 1 GENE; CHILD; CHILD NEGLECT; CLINICAL ARTICLE; CLINODACTYLY; COARSE FACE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; COORDINATION DISORDER; DETERIORATION; DEVELOPMENTAL DISORDER; DISEASE EXACERBATION; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; FACE DYSMORPHIA; FAILURE TO THRIVE; FEBRILE CONVULSION; FEMALE; FLATFOOT; GASTROESOPHAGEAL REFLUX; GASTROSCHISIS; GENE; GENE DELETION; GRAND MAL SEIZURE; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HERNIOPLASTY; HUMAN; INFANT; INTRACTABLE EPILEPSY; INTRACTABLE FRONTAL LOBE EPILEPSY; LETTER; MALE; MALNUTRITION; MICROCEPHALY; MICROPHTHALMIA; MUSCLE HYPOTONIA; NOSE FEEDING; OXYGEN THERAPY; PALPEBRAL FISSURE ANOMALY; PETIT MAL; PIGEON THORAX; PREMATURE LABOR; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; PULMONARY VALVE STENOSIS; SCHOOL CHILD; STOMACH TUBE; TACHYPNEA; TYW1B GENE; WBSCR17 GENE;

CALMODULIN; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; DIAPHRAGM; FEMALE; GENE DELETION; HUMANS; INFANT; MALE;

EID: 79955001668     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34002     Document Type: Letter

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