Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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Heterozygous missense variants ...... nt and vestibular dysfunction.

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Heterozygous missense variants ...... nt and vestibular dysfunction.

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Heterozygous missense variants ...... nt and vestibular dysfunction.

@en

Heterozygous missense variants ...... nt and vestibular dysfunction.

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Heterozygous missense variants ...... nt and vestibular dysfunction.

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Heterozygous missense variants ...... nt and vestibular dysfunction.

@nl

P1476

Heterozygous missense variants ...... nt and vestibular dysfunction.

@en

P2093

Andy J Beynon

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Bas P Hartel

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DOOFNL Consortium

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Hanka Venselaar

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Hannie Kremer

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Helger G Yntema

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Henricus P M Kunst

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Ilse Feenstra

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Jaap Oostrik

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Judith van Gaalen

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Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

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Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

P2888

s00439-018-1880-5

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scholarly article

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10.1007/S00439-018-1880-5

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Peter Lichtner

Vitória Piai

Berit Verbist

P577

2018-05-12T00:00:00Z

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P6179

1103962807

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29754270

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5973959

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