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1.
Ehlers-Danlos syndrome, classical type.
Am J Med Genet C Semin Med Genet
; 175(1): 27-39, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28192633
2.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28306229
3.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27576954
4.
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Eur J Hum Genet
; 31(7): 749-760, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36977837
5.
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.
Clin Dysmorphol
; 24(2): 45-54, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25436829
6.
Mosaic chromosome 6 trisomy in an epidermal nevus.
Pediatr Dermatol
; 24(2): 144-6, 2007.
Article
in English
| MEDLINE | ID: mdl-17461811
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