Literature DB >> 8558563

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.

B Dallapiccola1, R Mingarelli.   

Abstract

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Mesh：

Year:  1995        PMID： 8558563      PMCID： PMC1051709          DOI： 10.1136/jmg.32.10.816

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Shoulder abnormalities in association with branchio-oto-renal dysplasia in a patient who also has familial joint laxity.

Authors:  B H Pennie; H A Marres
Journal:  Int J Pediatr Otorhinolaryngol       Date:  1992-05       Impact factor: 1.675

2.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

3.  Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.

Authors:  F C Fraser; D Ling; D Clogg; B Nogrady
Journal:  Am J Med Genet       Date:  1978
  3 in total
  1 in total

1.  A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Authors:  Esther Pohl; Ayca Aykut; Filippo Beleggia; Emin Karaca; Burak Durmaz; Katharina Keupp; Esra Arslan; Melis Palamar; Melis Palamar Onay; Gökhan Yigit; Ferda Özkinay; Bernd Wollnik
Journal:  Hum Genet       Date:  2013-07-13       Impact factor: 4.132
  1 in total

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