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Mostrando ítems 1-10 de 13
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)
Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
(2010)
Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of ...
Possible New Syndrome: Left Ventricular Noncompaction, Partial Agenesis of the Corpus Callosum, and Developmental Delay in a Brazilian Child
(Wiley-liss, 2009-05-01)
We report oil the clinical, neuropsychological and language characteristics of it boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and ...
Possible New Syndrome: Left Ventricular Noncompaction, Partial Agenesis of the Corpus Callosum, and Developmental Delay in a Brazilian Child
(Wiley-liss, 2009-05-01)
We report oil the clinical, neuropsychological and language characteristics of it boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and ...
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
(ELSEVIER SCIENCE BV, 2011)
Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice ...
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
(Elsevier B.V., 2011-07-01)
Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice ...