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Article

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

American journal of medical genetics. Part A - 1 Apr 2021

Edgerley Katharine, Barnicoat Angela, Offiah Amaka C, Calder Alistair D, Mankad Kshitij, Thomas Nicholas Simon, Bunyan David J, Williams Maggie, Buxton Chris, Majumdar Arniban, Vijayakumar Kayal, Hilliard Tom, Turner James, Burren Christine P, Monsell Fergal, Smithson Sarah F

Abstract excerpt

Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD-H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy. Recently, SMD-H has been associated with variants confined to a specific intra-genic locus involving Exon 7, suggesting that AIFM1 plays an important role in bone development and metabolism as well as cerebral...

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Identifiers

PMID: 33439541
DOI: 10.1002/ajmg.a.62072

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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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