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Literature DB >> 526593

Craniofrontonasal dysplasia.

M M Cohen.

Abstract

Entities: Disease

Mesh：

Year: 1979 PMID： 526593

Source DB: PubMed Journal: Birth Defects Orig Artic Ser ISSN： 0547-6844

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Cited

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15 in total

Review 1. Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Authors: Peter G Farlie; Naomi L Baker; Patrick Yap; Tiong Y Tan
Journal: Mol Syndromol Date: 2016-10-29

2. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Authors: Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A Jeannette M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
Journal: Am J Hum Genet Date: 2006-04-28 Impact factor: 11.025

3. Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

Authors: Antonia Howaldt; Sheela Nampoothiri; Dhanya Yesodharan; Suhas Udayakumaran; Pramod Subash; Uwe Kornak
Journal: J Hum Genet Date: 2019-07-08 Impact factor: 3.172

4. Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.

Authors: R A Valério; C Scatena; F R R Santos; F L Romano; A M Queiroz; F W G Paula-Silva
Journal: Eur Arch Paediatr Dent Date: 2017-03-01

Review 5. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies.

Authors: Gillian M Morriss-Kay; Andrew O M Wilkie
Journal: J Anat Date: 2005-11 Impact factor: 2.610

Craniofrontonasal dysplasia.

Review 1. Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

2. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

3. Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

4. Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.

Review 5. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies.

6. Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients.

7. Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

8. Craniofrontonasal dysplasia.

9. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Review 10. Syndromic Craniosynostosis: Complexities of Clinical Care.