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SOFIA PAIVA; RUI CEREJEIRA; PAULO GONÇALVES; lIMA GOUVEIA; ANTÓNIO PAIVA
Fraser GR (1976) The Causes of Profound
Deafness in Chilwood. Johns Hopkins Uni-
Abdelok S, Kalatsis V, Heilig R, Compoin versity Press, Baltimore
S, Samson D, Vincent C, Levi-Acobas F, Greenberg Cr, Treven CL, Evans JA (1988)
Cruaud C, Le Merrer M, Mathieu M, Ko- The BOR syndrome ond renal ogenesis -
nig R, Vigeron J, Weissenbach J, Petit C, - prenatal diagnosis and further clinical de—
Wei) D. Clustering of mutations responsi- liniotions. Prenat Diagn 8: 103-8
ble for Bronquio-oto-renal (BOR) syndrome Kempermon MH, Koch SM, Joosten FB,
in the eyes absent homologous region Kumar S, Huygen PL, Cremers CW (2002)
(eyoHR) of EYAI. Inner Ear onomoies ore Frequent but no
Hum Mol Genet 1997; 6: 2247-2255. nobligotory features of the bronchio-oto-
Abdelok S, Kalatsis V, Heilig R, Compoin S, ~renal syndrome. Arch Otolaryngol Hoed
Samson D, Vincent C,Weil D, Cruaud C, Neck Surg 128: 1033-8
80th ), leibovici V, Bitner-Glindzics M, Kumar S, Defienbacher K, Cremers CW,
Francis M, locombe D, Vigneron J, Chora- Van Camp G, Kimberling WJ (1997) Bron-
chon R, Boven K, Bedbeder P, Van Rege- chio—oto-renol syndrome: identification of
morter N, Weissenboch J, Petit C. A human novel mutations, molecular characterizati-
homologue of the drosophila eyes absent on, mutatiom distribution, ond prospects for
gene underlies branchiotorenal (BOR) syn genetic testing. Getnet Test 1: 243-51
drome ond identifies a novel gene family. 10 Morres S, Morres HA, Cremrs CW (1991)
Nature Genetics 1997; 15: 157—164 Congenital conductive or mixed deafness,
Chong EH, Menezes M, Meyer NC, Cuc- precuricular sinus, external eor onomoly,
ci RA, Vervoort VS, Shortz CE, Smith R1 and commissurol lip pit: on outossomol
(2003) Bronquio-oto-renol syndorme - the dominot inherited syndrome.
mutation spectrum in EYA) ond its pheno- Ann Otol Rhinol Loryngol 100: 928-32
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GUIDELINES E PROTOCOLOS
1 . American College of Medical Genetics (2002) Genetics evaluation guidelines for the etiolo
gic diagnosis of congenital hearing loss.
Genetic evaluation of congenital hearing loss expert panel (pdf)
American College of Medical Genetics (2000) Statement on universal newborn heoring scre-
enig.
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