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Quoted phrase not found in phrase index: "Lethal Larsen-like syndrome"
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B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.
Previously described patients of B3GAT3-deficiency were, however, all children with phenotypes ranging from prenatal manifestation and early lethality to less severe. We suggest that this novel homozygous in-frame deletion in B3GAT3 may be the cause of a recessive form of …
Previously described patients of B3GAT3-deficiency were, however, all children with phenotypes ranging from prenatal manifestation and early …
Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome.
De la Rocha A, Birch JG, Schiller JR. De la Rocha A, et al. J Bone Joint Surg Am. 2012 May 2;94(9):e55. doi: 10.2106/JBJS.K.00865. J Bone Joint Surg Am. 2012. PMID: 22552677
BACKGROUND: Larsen syndrome is associated with multiple complications, including spinal deformities and recalcitrant joint dislocations. We noted capital femoral ossific nuclei on ultrasonographic images that were made for two infants with Larsen syndrome who were l …
BACKGROUND: Larsen syndrome is associated with multiple complications, including spinal deformities and recalcitrant joint dislocatio …