Mutations of SMAD4 account for both LAPS and Myhre syndromes
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35374/fullpdf
Reference13 articles.
1. Myhre syndrome: New reports, review, and differential diagnosis;Burglen;J Med Genet,2003
2. Myhre syndrome: First female case;Davalos;Clin Dysmorphol,2003
3. The Myhre syndrome: Report of two cases;Garcia-Cruz;Clin Genet,1993
4. Progressive laryngotracheal stenosis with short stature and arthropathy;Hopkin;Am J Med Genet,1998
5. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome;Le Goff;Nat Genet,2011
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4. A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4;Molecular Genetics & Genomic Medicine;2022-11-14
5. Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response;Pediatric and Developmental Pathology;2022-09-17
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