Brancial arch anomalies, hearing loss and ear pits inherited in an autosomal dominant manner: genetic evidence that branchio-oculo-facial and associated conditions are not identical to branchio-oto-renal syndrome

被引：0

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作者：

Constantine A Stratakis

Jing-Ping Lin

Owen M Rennert

机构：

[1] UGEN,

[2] SPE,undefined

[3] DEB,undefined

[4] NICHD,undefined

[5] NIH,undefined

[6] Genetics Section,undefined

[7] NIAMS,undefined

[8] NIH,undefined

[9] Pediatrics,undefined

[10] Georgetown University,undefined

来源：

Pediatric Research | 1998年 / 43卷 / Suppl 4期

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D O I：

10.1203/00006450-199804001-00759

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页码：128 / 128

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[1] Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)
Stratakis, CA
Lin, JP
Rennert, OM
AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 79 (03): : 209 - 214
[2] Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: Clinical and genetic implications
Kumar, S
Deffenbacher, K
Marres, HAM
Cremers, CWRJ
Kimberling, WJ
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (05) : 1715 - 1720
[3] Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio-oto-costal syndrome?
Clementi, M
Mammi, I
Tenconi, R
AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 68 (01): : 91 - 93