Article
2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
Cytogenetic and genome research - 1 Jan 2015
Mehraein Yasmin, Pfob Martina, Steinlein Ortrud, Aichinger Eric, Eggert Marlene, Bubendorff Valerie, Mannhart Adelina, Müller Stefan
Abstract excerpt
2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and var...
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