The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
about
Whole exome sequencing to identify genetic causes of short statureExpanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.Molecular subtyping and improved treatment of neurodevelopmental disease.When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.Genetics of Short Stature.Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.The defining DNA methylation signature of Floating-Harbor Syndrome.WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature
P2860
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P2860
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
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The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@ast
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en-gb
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@nl
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label
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@ast
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en-gb
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@nl
prefLabel
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@ast
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en-gb
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@nl
P2093
P2860
P50
P356
P1476
The phenotype of Floating-Harb ...... mutations in exon 34 of SRCAP
@en
P2093
Alexandra Afenjar
Andrew Dauber
Anne Destrée
Anne Slavotinek
Beate Albrecht
Bert B A de Vries
Bruna Santos da Cunha
Chandree L Beaulieu
Claire M Jacob
P2860
P2888
P356
10.1186/1750-1172-8-63
P407
P50
P577
2013-01-01T00:00:00Z
P5875
P6179
1020034497