Oral-facial-skeletal syndromes
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference29 articles.
1. Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.
2. Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism
3. Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
4. Oral-facial-digital syndrome: Report on a transitional type between the Mohr and Váradi syndromes in a fetus
5. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes
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1. Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma;American Journal of Medical Genetics Part A;2023-07-12
2. Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families;The Cleft Palate-Craniofacial Journal;2020-02-17
3. Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families;European Journal of Medical Genetics;2017-10
4. Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome);Case Reports in Dentistry;2014
5. Proteomics-based identification of novel proteins in temporal tendons of patients with masticatory muscle tendon–aponeurosis hyperplasia;International Journal of Oral and Maxillofacial Surgery;2014-01
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