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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
by
Thauvin-Robinet, C.
,
Duplomb-Jego, L.
,
Limoge, F.
,
Picot, D.
,
Masurel, A.
,
Terriat, B.
,
Champilou, C.
,
Minot, D.
,
St-Onge, J.
,
Kuentz, P.
,
Duffourd, Y.
,
Thevenon, J.
,
Rivière, J.-B.
,
Faivre, L.
Published in
Clinical genetics
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Clinical Genetics
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Abnormalities, Multiple - Genetics
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Abnormalities, Multiple - Pathology
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Adolescent
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Carrier Proteins - Genetics
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Consanguinity
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Exome - Genetics
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Eye Abnormalities
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Female
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Fgf1
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Fibp
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Fibroblasts
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Genetic Disorders
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Genetic Variation
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Genetics & Heredity
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Growth Disorders
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Growth Factors
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High-Throughput Nucleotide Sequencing - Methods
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Homozygote
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Human Health And Pathology
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Humans
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Wiley-Blackwell Journals (Backfile Content)
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