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Article

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.

American journal of medical genetics. Part A - 1 Oct 2015

Poelmans Simon, Kawamoto Tatsuro, Cristofoli Francesca, Politis Constantinus, Vermeesch Joris, Bailleul-Forestier Isabelle, Hens Greet, Devriendt Koenraad, Verdonck Anna, Carels Carine

Abstract excerpt

Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median maxillary central incisor, and a range of other phenotypic anomalies wi...

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Source

Identifiers

PMID: 26080100
DOI: 10.1002/ajmg.a.37207

Genes

SHH
SIX3
TGIF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26080100-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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