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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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A Clinical Study of Noonan Syndrome
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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