Array CGH ends diagnostic odyssey for infant with features of williams and alagille syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 1102-1103

  Honeywell, C ^a   Gardin, L ^a   Jimenez Rivera, C ^a   Allanson, J ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; ANAMNESIS; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; LETTER; NEWBORN; PHYSICAL EXAMINATION; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

ALAGILLE SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; WILLIAMS SYNDROME;

EID: 66849119261     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32819     Document Type: Letter

References (3)

1. Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. 1999. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 29:822-829.
2. Shah PS, Murthy P, Skidmore D, Shaffer LG, Bejjani BA, Chitayat D. 2008. Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet Part A 146A:2407-2411.
3. Wren C, Oslizlok P, Bull C. 1990. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol 15:1625- 1630.