GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

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Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome

P2860

Q56866834-F7A1BEA9-8EA9-402A-A69B-92EBB9E5EE47

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

@en

P1476

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

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P2093

Ameen Softa

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Arif O Khan

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Dilek Colak

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Eman Alobeid

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Fatima M Al-Fadhli

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Firdous M Abdulwahab

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Hanan E Shamseldin

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Mais Hashem

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Nadia Sakati

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Nisha Patel

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P2860

GDNF-inducible zinc finger protein 1 is a sequence-specific transcriptional repressor that binds to the HOXA10 gene regulatory region.

Mutations in LRPAP1 are associated with severe myopia in humans

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Identification of a novel glial cell line-derived neurotrophic factor-inducible gene required for renal branching morphogenesis

Severe cardiac anomalies in sibs with Larsen syndrome.

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Multiple congenital dislocations associated with characteristic facial abnormality.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

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831-836

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scholarly article

case report

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10.1016/J.AJHG.2017.04.008

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English

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100

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Fowzan S Alkuraya

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2017-05-01T00:00:00Z

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28475863

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5420357

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

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P2860

P2860

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932