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Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
by
Tekin, Mustafa
,
Cengiz, Filiz Başak
,
Ayberkin, Eda
,
Kendirli, Tanıl
,
Fitoz, Suat
,
Tutar, Ercan
,
Çiftçi, Ergin
,
Conba, Atakan
Published in
American journal of medical genetics. Part A
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Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
by
Tekin, Mustafa
,
Cengiz, Filiz Başak
,
Ayberkin, Eda
,
Kendirli, Tanıl
,
Fitoz, Suat
,
Tutar, Ercan
,
Çiftçi, Ergin
,
Conba, Atakan
Published in
American Journal of Medical Genetics Part A
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American Journal Of Medical Genetics. Part A
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Subjects
Cysteine Residue
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Emphysema
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Fibrillin-1
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Mosaicism
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Neonatal Marfan Syndrome
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Biological And Medical Sciences
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Chronic Obstructive Pulmonary Disease, Asthma
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Family Health
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Fatal Outcome
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Fibrillins
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Fibrillin‐1
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Genetic Counseling
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Genetics & Heredity
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Heterozygote
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Humans
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Infant, Newborn
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Life Sciences & Biomedicine
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Male
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Marfan Syndrome - Diagnosis
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Marfan Syndrome - Genetics
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Wiley Online Library
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Wiley-Blackwell Read & Publish Collection
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Science Citation Index Expanded (Web Of Science)
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