Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference12 articles.
1. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities;Adam;Am. J. Med. Genet. A,2005
2. Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations;Eich;Radiology,1991
3. Neonatal Marshall-Smith syndrome;Gómez-Santos;Clin. Dysmorphol.,2014
4. The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations;Hassan;Pediatr. Radiol.,1976
5. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature;Klaassens;Eur. J. Hum. Genet.,2015
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1. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing;American Journal of Medical Genetics Part A;2024-01-02
2. A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features ofMarshall‐SmithSyndrome;JBMR Plus;2023-03-30
3. Further characterization of NFIB ‐associated phenotypes: Report of two new individuals;American Journal of Medical Genetics Part A;2022-11-02
4. Traumatic globe rupture in a patient with Marshall-Smith Syndrome;Journal of Clinical Anesthesia;2019-12
5. Secretory Carcinoma of the Skin;American Journal of Surgical Pathology;2019-08
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