Autism, psychosis and marfan: The Lujan–Fryns syndrome
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DOI: 10.1016/j.eurpsy.2017.01.468
Abstract: Objectives We report the case of a 19-year-old male who was brought to our psychiatry consultation by his family for behavioural disorders and poor school performance of years of evolution. Results We found ourselves before… read more here.
Keywords: fryns syndrome; autism psychosis; lujan fryns; marfan lujan ... See more keywords
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series
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DOI: 10.3390/life14050628
Abstract: Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as… read more here.
Keywords: fryns syndrome; pign gene; novel splice; two novel ... See more keywords