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Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Aug 2022

Hong Zhidan, He Xuanyi, Yu Fang, Liu Huanyu, Zhang Xiaoli, Zhang Yuanzhen

Abstract excerpt

Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive inherited disorder. Missed diagnosis might happen in clinical works due to an unclear genotype-phenotype correlation. We analyzed two families visiting our center; the parents are normal; each of the family aborted a fetus at 12WG. Following ultrasonography and pathological examination, both were diagnosed as MKS. Whole exome sequencing identified...

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Identifiers

PMID: 34981460
DOI: 10.1007/s43032-021-00835-5
PMCID: PMC9352615

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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