Giant Omphalocele Complicated by 9P Minus Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the National Medical Association"
DOI: 10.1016/j.jnma.2020.07.006
Abstract: Omphalocele is characterized as a ventral wall defect in which there exists a midline herniation of abdominal viscera into the base of the umbilical cord. Fetuses with a diagnosis of this entity are at a… read more here.
Keywords: omphalocele complicated; minus syndrome; complicated minus; giant omphalocele ... See more keywords
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.645595
Abstract: Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental… read more here.
Keywords: cohort; deep phenotyping; phenotyping genetic; minus syndrome ... See more keywords