Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

Autor: Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H

Publikováno v: Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 91-94 (2016)

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the p

Externí odkaz: https://doaj.org/article/c73c456821b04e29850a11622026eaf9

RARE BRANCHIAL ARCH ANOMALIES

Autor: Abhijit Sarma, Chandan Jyoti Saikia, Jayanta Kumar Goswami

Publikováno v: Journal of Evidence Based Medicine and Healthcare, Vol 3, Iss 19, Pp 752-755 (2016)

AIM Amongst the branchial arch anomalies third arch anomaly occurs rarely and more so the fourth arch anomalies. We present our experience with cases of rare branchial arch anomalies. PATIENTS AND METHODS From June 2006 to January 2016, cases having

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f6dffc8644530b0e683999d58e3669

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Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

Autor: Spahiu L; Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo., Merovci B; Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo., Ismaili Jaha V; Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo., Batalli Këpuska A; Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo., Jashari H; Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo.

Publikováno v: Balkan journal of medical genetics : BJMG [Balkan J Med Genet] 2017 Mar 04; Vol. 19 (2), pp. 91-94. Date of Electronic Publication: 2017 Mar 04 (Print Publication: 2016).