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Clinical Dysmorphology|August 24, 2000
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalitiesA S Plomp, W Reardon, S Benton, et al.Journal of Medical Genetics|July 25, 1998
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotypeA K Ryan, K Bartlett, P Clayton, et al.Human Genetics|June 21, 2001
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard, M Parker, W van't Hoff, et al.Clinical Genetics|August 18, 1999
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22L J Pulleyn, R M Winter, W Reardon, et al.American Journal of Human Genetics|April 1, 1994
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5qL van Herwerden, C S Rose, W Reardon, et al.The British Journal of Ophthalmology|May 29, 1998
Optic disc anomalies and frontonasal dysplasiaP Hodgkins, M Lees, J Lawson, et al.European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|June 9, 2004
Familial syndromic duodenal atresia: Feingold syndromeM Holder-Espinasse, Z Ahmad, J Hamill, et al.Lancet (London, England)|July 31, 2001
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromesX Zhou, H Hampel, H Thiele, et al.Journal of Medical Genetics|September 1, 1996
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricansD Wilkes, P Rutland, L J Pulleyn, et al.Archives of Disease in Childhood|March 1, 1984
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophyM E Pembrey, K E Davies, R M Winter, et al.Pageof 19