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12.16. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

Y Luo , A Eran , N Palmer , P Avillach , A Levy-Moonshine , P Szolovits , IS Kohane

Nat Med. 2020 Sep;26(9):13751379. doi: 10.1038/s41591-020-1007-0. PMID: 32778826.In brief: A subtype of autism arising from a cluster of genes that regulate both cholesterol metabolism and brain development was identified by integrating multiple data modalities.Comment: Autism spectrum disorder (ASD) is now estimated to affect 1:54 children ...

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ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...

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ESPE Yearbook of Paediatric Endocrinology

12.16. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

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