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Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
(Karger, 2015-01-01)
Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at ...
Case report: psoriasis relapse following adrenalectomy for cushing syndrome
(2011)
The relapse of autoimmune diseases following resolution of Cushing syndrome (CS) has been established with frequency, especially for thyroid disease. We present the case of a 39-year-old woman with a history of psoriasis ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(ELSEVIER SCIENCE BV, 2009)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(Elsevier B.V., 2009-09-01)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
Emanuel Syndrome: first case reported in Mexico
(Universidad del Zulia, 2018)
ESTIMATION OF PENETRANCE OF THE SOTOS SYNDROME GENE D-MORETTI-FERREIRA
(Univ Chicago Press, 1991-10-01)
ESTIMATION OF PENETRANCE OF THE SOTOS SYNDROME GENE D-MORETTI-FERREIRA
(Univ Chicago Press, 1991-10-01)