FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
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Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disordersGenetic insights into the mechanisms of Fgf signalingTooth agenesis and orofacial clefting: genetic brothers in arms?Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicismThe Fibroblast Growth Factor signaling pathwayHyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 geneCongenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.Genomic approaches for studying craniofacial disorders.DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?Six3 dosage mediates the pathogenesis of holoprosencephaly.The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing.Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 28 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
@en
FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
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label
FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
@en
FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
@nl
prefLabel
FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
@en
FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
@nl
P2093
P2860
P50
P1476
FGFR1 mutations cause Hartsfie ...... rosencephaly and ectrodactyly.
@en
P2093
Boyan Dimitrov
Bronwyn Kerr
Camille Perazzolo
Catheline Vilain
Claudine Heinrichs
Deepthi C de Silva
Georges Casimir
Guy Van Vliet
Marc Abramowicz
Nelle Lambert
P2860
P304
P356
10.1136/JMEDGENET-2013-101603
P407
P577
2013-06-28T00:00:00Z