Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
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DOI: 10.2337/db17-0040
Abstract: Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients’ prognosis and clinical management. We sought to identify novel… read more here.
Keywords: lrba mutations; presenting neonatal; autoimmunity; autoimmunity presenting ... See more keywords
MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
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DOI: 10.3389/fendo.2021.742495
Abstract: Introduction Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently… read more here.
Keywords: presenting neonatal; adrenal insufficiency; recurrent intussusception; case ... See more keywords
Congenital obstructive bowel anomalies presenting after neonatal age
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DOI: 10.4314/mmj.v31i1.13
Abstract: Background Delayed presentation might affect the ultimate management of children with congenital bowel obstructive bowel anomalies (CBA). We evaluated the profile, challenges of treatment and outcome of CBA presenting after neonatal age. Methods We did… read more here.
Keywords: bowel anomalies; bowel; age; presenting neonatal ... See more keywords