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  • 1-10 ل  1,027 نتائج ل ""Mandibulofacial Dysostosis""

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Academic Journal

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

  • Authors : Lyulcheva-Bennett E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, L8 7SS, UK. .; Faculty of Health and Life Sciences, University of Liverpool, Liverpool, L69 7ZB, UK. .

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/diagnosis ; Microcephaly*/Microcephaly*/Microcephaly*/complications

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Sep 06; Vol. 17 (1), pp. 226. Date of Electronic Publication: 2024 Sep 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.

  • Authors : Chen Y; Department of Facial Plastic and Reconstructive Surgery, Eye & ENT Hospital of Fudan University, Shanghai, China.; ENT Institute, Eye & ENT Hospital of Fudan University, Shanghai, China.

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/pathology ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/pathology

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2426.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Treacher Collins Syndrome (mandibulofacial dysostosis) – A case report

Subjects: mandibulofacial dysostosis; branchial region; craniofacial abnormalities

  • Source: Romanian Journal of Neurology, Vol 23, Iss 2, Pp 197-203 (2024)

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Academic Journal

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.

  • Authors : Jiang Z; School of Engineering Medicine, Beihang University, Beijing, China.; Mao K

Subjects: Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics ; Mutation*/Mutation*/Mutation*/genetics ; Nuclear Proteins*/Nuclear Proteins*/Nuclear Proteins*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Feb 07; Vol. 20 (1), pp. 57. Date of Electronic Publication: 2025 Feb 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.

  • Authors : Yang M; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/diagnostic imaging ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics

  • Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2022 May; Vol. 36 (5), pp. e24440. Date of Electronic Publication: 2022 Apr 18.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825

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Academic Journal

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.

  • Authors : Dragoi V; Obstetrics & Gynecology Department, Bucharest Emergency University Hospital, Bucharest, Romania.; Nedelea F

Subjects: Intellectual Disability* ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/diagnostic imaging ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics

  • Source: Journal of medicine and life [J Med Life] 2021 Sep-Oct; Vol. 14 (5), pp. 722-725.Publisher:

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Academic Journal

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

  • Authors : Antal G; Department of Dentistry, Oral and Maxillofacial Surgery, Clinical Center, Medical School, University of Pécs, 7623 Pécs, Hungary.; Zsigmond A

Subjects: Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics ; High-Throughput Nucleotide Sequencing* ; Mutation*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 23; Vol. 25 (21). Date of Electronic Publication: 2024 Oct 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Subjects: Medicin och hälsovetenskap

  • Source: American journal of human genetics. 96(4):519-531

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Academic Journal

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Subjects: EFTUD2; Mandibulofacial dysostosis with microcephaly; de novo

  • Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

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Academic Journal

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Subjects: Pediatric; Congenital Structural Anomalies; Rare Diseases

  • Source: Human Mutation. 37(2)

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  • 1-10 ل  1,027 نتائج ل ""Mandibulofacial Dysostosis""