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Laurin-Sandrow Syndrome: A Case Report and Review of Literature.
J Hand Surg Asian Pac Vol. 2022 Aug;27(4):742-746. doi: 10.1142/S2424835522720389. Epub 2022 Aug 8.
J Hand Surg Asian Pac Vol. 2022.
PMID: 35965362
Review.
It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequen …
It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray dupli …
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.
Kaiwar C, et al.
Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov.
Cold Spring Harb Mol Case Stud. 2017.
PMID: 28963436
Free PMC article.
Review.
Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, and thinning of the corpus callosum. Here we report two unrelated p …
Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism …
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