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Article

Expanding the clinical phenotype of FGFR1 internal tandem duplication.

Cold Spring Harbor molecular case studies - 1 Feb 2022

Kautto Esko A, Schieffer Kathleen M, McGrath Sean, Miller Anthony R, Hernandez-Gonzalez Maria Elena, Choi Samantha, Conces Miriam R, Fernandez-Faith Esteban, Ho Mai-Lan, Lee Kristy, Lillis Anna P, Pearson Gregory D, Kaler Stephen G, Wilson Richard K, Mardis Elaine R, Magrini Vincent, Leonard Jeffrey, Cottrell Catherine E

Abstract excerpt

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion...

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Identifiers

PMID: 35149534
DOI: 10.1101/mcs.a006174
PMCID: PMC8958921

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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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