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Article

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

European journal of medical genetics - 1 Jun 2024

Mégarbané Andre, Mehawej Cybel, Mahfoud Daniel, Chouery Eliane, Devriendt Koenraad, Hijazi Mariam, Ryu Seung W, Kim JiHye, McNeill Alisdair

Abstract excerpt

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes...

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PMID: 38679370
DOI: 10.1016/j.ejmg.2024.104944

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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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