Early onset marfan syndrome: Atypical clinical presentation of two cases

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A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team.

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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A Baykan

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A Ozyurt

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H Halis

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M Argun

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N Narin

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O Pamukcu

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S Korkut

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T Gunes

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P2860

The revised Ghent nosology for the Marfan syndrome

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.

Craniosynostosis and marfanoid habitus without mental retardation: report of a third case.

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.

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71-76

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scholarly article

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10.1515/BJMG-2015-0008

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Zafer Yuksel

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2015-06-01T00:00:00Z

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290447459

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26929908

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4768828

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Early onset marfan syndrome: Atypical clinical presentation of two cases

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P2860

P2860

Early onset marfan syndrome: Atypical clinical presentation of two cases

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932