23
Dec
GBC3 deletion mutation and Precocious puberty in a case of Simpson–Golabi–Behmel syndrome
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GPC3 mutation/deletion and Simpson-Golbai-Behmel syndrome (SGBS). This syndrome is characterized by pre- and post- macrosomia and distinctive craniofacial features such as macrocephaly, coarse facial features, and palatal abnormalities. Mild-to-severe intellectual disability with or without structural brain anomalies are also commonly noted. Other variable findings include supernumerary nipples, diastasis recti,... Read More
22
Dec
CDO Winter 2022 Newsletter
Chromosome Disorder Outreach’s Winter 2022 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Winter issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
15
Aug
CDO Summer 2022 Newsletter now available!
Chromosome Disorder Outreach’s Summer 2022 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Summer 2022 issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
17
Dec
CDO Fall – Winter 2021 Newsletter
Chromosome Disorder Outreach’s Fall-Winter 2021 Newsletter is now available! Each issue contains detailed and new information on rare chromosome and gene mutation disorders. The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Fall-Winter 2021 issue here.... Read More
27
Aug
Neuropsychiatric problems and chromosome disorders
Psychiatric symptoms found in some patients with chromosome disorders. There is no doubt that genetic factors play a significant role in the origin of schizophrenia and other neuropsychiatric disorders. At the same time, only a few genes are implicated as major factors for the development of these conditions. The authors... Read More