Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

doi:10.1038/s41436-021-01216-8

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Article

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021

Ravenscroft Thomas A, Phillips Jennifer B, Fieg Elizabeth, Bajikar Sameer S, Peirce Judy, Wegner Jeremy, Luna Alia A, Fox Eric J, Yan Yi-Lin, Rosenfeld Jill A, Zirin Jonathan, Kanca Oguz, Benke Paul J, Cameron Eric S, Strehlow Vincent, Platzer Konrad, Jamra Rami Abou, Klöckner Chiara, Osmond Matthew, Licata Thomas, Rojas Samantha, Dyment David, Chong Josephine S C, Lincoln Sharyn, Stoler Joan M, Postlethwait John H, Wangler Michael F, Yamamoto Shinya, Krier Joel, Westerfield Monte, Bellen Hugo J

Abstract excerpt

PURPOSE: Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants. METHODS: We...

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PMID: 34113007
DOI: 10.1038/s41436-021-01216-8
PMCID: PMC8487929

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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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