A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Samuel David Amio Valientes, Hua Wang

Abstract readCase Reports

In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Samuel David Amio ValientesDivision of Medical Genetics, Department of Pediatrics, Stanford Health Care, Stanford, CA 94304, USA.

Hua WangDivision of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA.

Funding

Loma Linda University School of Medicine GCAT PPM#101276

6 · The paper itself

Abstract

Langer-Giedion syndrome (LGS), also known as trichorhinophalangeal syndrome type II (TRPS II; OMIM #150230), is a contiguous-gene deletion disorder caused by haploinsufficiency of

Indexed as

De Lange SyndromeExostoses, Multiple HereditaryLanger-Giedion SyndromeChild, PreschoolChromosome DeletionChromosomes, Human, Pair 8DNA-Binding ProteinsExostosin 1FemaleHumansMosaicismN-AcetylglucosaminyltransferasesPhenotypeRepressor ProteinsTranscription FactorsDNA-Binding ProteinsExostosin 1N-AcetylglucosaminyltransferasesRepressor ProteinsTranscription FactorsTRPS1 protein, human8q23.1–q24.12bisphosphonateCornelia de Lange syndromeEXT1hereditary multiple osteochondromasLanger–Giedion syndromemosaic deletionpamidronateRAD21TRPS1

Identifiers

PMID41751561

DOI10.3390/genes17020175

PMCPMC12940567

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.