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Article

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

Congenital anomalies - 1 Jul 2024

Nagayama Shiho, Takahashi Hironori, Hasegawa Fuyuki, Hori Asuka, Kizami Sho, Furukawa Rieko, Horie Kenji, Ogoyama Manabu, Hata Kenichiro, Fujiwara Hiroyuki

Abstract excerpt

A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound...

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Identifiers

PMID: 38637985
DOI: 10.1111/cga.12569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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