作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joan A O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; Strasbourg ; Cedex ; 67098 ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; Illkirch ; 67404 ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

刊名：Journal of Neurodevelopmental Disorders

出版年：2015

作者：Muriel de la Dure-Molla (13) (14)
Mickael Quentric (13) (15)
Paulo Marcio Yamaguti (16)
Ana-Carolina Acevedo (16) (17)
Alan J Mighell (18)
Miikka Vikkula (15)
Mathilde Huckert (19) (20) (21) (23)
Ariane Berdal (13) (14)
Agnes Bloch-Zupan (19) (20) (21) (22)

13. Laboratory of Molecular Oral Pathophysiology ; INSERM UMRS 1138 ; Cordeliers Research Center ; Paris ; France
14. Center of Rare Malformations of the Face and Oral Cavity (MAFACE) ; H么pital Rothschild ; Paris ; France
15. Laboratory of Human Molecular Genetics ; de Duve Institute ; Universit茅 catholique de Louvain ; Brussels ; Belgium
16. Oral Care Center for Inherited Disease ; University Hospital of Brasilia ; University of Brasilia ; Brasilia ; Brazil
17. Department of Dentistry ; Health Sciences School ; University of Brasilia ; Brasilia ; Brazil
18. School of Dentistry ; The University of Leeds ; Leeds ; UK
19. Faculty of Dentistry ; University of Strasbourg (UdS) ; Strasbourg ; France
20. Reference Centre for Orodental Manifestations of Rare Diseases ; P么le de M茅decine et Chirurgie Bucco-Dentaires ; H么pitaux Universitaires de Strasbourg (HUS) ; Strasbourg ; France
21. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
23. Laboratoire de G茅n茅tique M茅dicale ; UMRS 1112 ; Faculty of Medicine ; UdS ; Strasbourg ; France
22. Institute of Genetics and Molecular and Cellular Biology (IGBMC) ; CNRS UMR 7104 - Inserm U 964 ; Illkirch ; France

关键词：Enamel Renal Syndrome (ERS) ; Amelogenesis Imperfecta and Gingival Fibromatosis syndrome (AIFGS) ; Enamel Dysplasia with Hamartomatous atypical Follicular Hyperplasia Syndrome (EDHFH) ; Amelogenesis Imperfecta ; Enamel defect ; Delayed tooth eruption ; Intra ; pulpal calcification ; Gingival hyperplasia ; FAM20A

刊名：Orphanet Journal of Rare Diseases

出版年：2014

作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joanne O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; 67098 ; Strasbourg ; Cedex ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; 67404 ; Illkirch ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

关键词：FMR1 ; FXTAS ; Premutation ; Fragile X ; Tremor ; Ataxia

刊名：Journal of Neurodevelopmental Disorders

出版年：2014