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Mostrando ítems 11-20 de 47
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
(Wiley-liss, 2014)
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Associated with True Hermaphroditism.
(Endocrine Soc, 2010-06-01)
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Associated with True Hermaphroditism.
(Endocrine Soc, 2010-06-01)
The Ohdo blepharophimosis syndrome in a Mexican boy
(1992)
The clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis ...
The Ohdo blepharophimosis syndrome in a Mexican boy
(1992)
The clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis ...
BLEPHAROFYMOSIS, CLEFT PALATE AND CONGENITAL CARDIOPATHY ASSOCIATED WITH COGNITIVE DEFICIT, SYNDROME OF BLEPHAROFIMOSIS TYPE OHDOBLEFAROFIMOSIS, PALADAR HENDIDO Y CARDIOPATÍA CONGÉNITA ASOCIADA A DÉFICIT COGNITIVO, SÍNDROME DE BLEFAROFIMOSIS TIPO OHDO
(Universidad Centroccidental Lisandro Alvarado, 2018)
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome
(Lippincott Williams, 2020-01)
Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS; OMIM 603736), which overlaps with the originally described Ohdo syndrome (Verloes, 2006), is an autosomal dominant disorder, clinically recognizable at birth. Classical ...