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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Associated With p63 Mutation and an Uncommon Phenotype
(Alliance Communications Group Division Allen PressLawrenceEUA, 2010)
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
(Wiley-Blackwell, 1992-02-01)
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented ...
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
(Wiley-Blackwell, 1992-02-01)
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented ...
Displasia ectodérmica, ectrodactilia e fissura lábio-palatal: manifestações oculares da síndrome em relato de caso
(Conselho Brasileiro de Oftalmologia, 2007-02-01)
A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and ...
Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity
(Ciudad Autónoma de Buenos AiresCiudad Autónoma de Buenos Aires de
Lat: 34 36 00 S degrees minutes Lat: -34.6000 decimal degrees
Long: 058 27 00 W degrees minutes Long: -58.4500 decimal degrees, 2012-10-01)
El síndrome ectrodactilia, displasia ectodérmica y fisura de la-
bio/paladar es una entidad poco frecuente, asociada a la mu-
tación de genes que codifican la proteína p63. Presentamos un
caso de un paciente con ...