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Journal Article
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 01/2016, Volume 17, Issue 1, pp. 125 - 129
We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial... 
Facial dysmorphism | Balanced translocation | Trigonocephaly | Physiological aspects | Nervous system diseases
Journal Article
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE, ISSN 0019-1442, 11/2008, Volume 61, Issue 11-12, pp. 426 - 430
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 09/2014, Volume 3, Issue 3, pp. 141 - 145
Abstract The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with... 
Review Article | Review | TCF4 phenotype | Pitts-Hopkins syndrome | facial dysmorphism
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2006, Volume 50, Issue 1, pp. 48 - 53
Abstract Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2 months of age in the context of a syndromic... 
Medical Education | Polymicrogyria | Cerebellar vermis hypoplasia | Cleft palate | cerebellar vermis hypoplasia | polymicrogyria | cleft palate | MUTATIONS | GENE | GENETICS & HEREDITY | Facial Bones - abnormalities | Cleft Palate - pathology | Humans | Female | Infant | Cerebellum - abnormalities | Infant, Newborn | Syndrome
Journal Article
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