Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

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Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

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im Januar 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 17 November 2017

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wetenschappelijk artikel

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наукова стаття, опублікована в січні 2018

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name

Unique association of hypochon ...... eft palate in a Mexican family

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Unique association of hypochon ...... eft palate in a Mexican family

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Unique association of hypochon ...... eft palate in a Mexican family

@en

Unique association of hypochon ...... eft palate in a Mexican family

@nl

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Unique association of hypochon ...... eft palate in a Mexican family

@en

Unique association of hypochon ...... eft palate in a Mexican family

@nl

P1476

Unique association of hypochon ...... eft palate in a Mexican family

@en

P2093

Alan Caro-Contreras

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Paola Moyers-Pérez

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Roberto Cruz-Alcívar

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Sandra Ramos

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P2860

Clinical and genetic heterogeneity of hypochondroplasia

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.

Altered FGF Signaling Pathways Impair Cell Proliferation and Elevation of Palate Shelves.

Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway

Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review.

Development of the lip and palate: FGF signalling.

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

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161-166

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P31

scholarly article

P356

10.1002/AJMG.A.38526

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P407

English

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176

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A González-del Angel

M A Alcántara-Ortigoza

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2017-11-17T00:00:00Z

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P698

29150894

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P921

craniosynostosis