Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

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prefLabel

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

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P1476

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

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P2093

Asaf Ta-Shma

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Ben Pode-Shakked

http://www.w3.org/2001/XMLSchema#string

Chaim Jalas

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Erica E Davis

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Friedhelm Hildebrandt

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Jason R Willer

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Nicholas Katsanis

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Orly Elpeleg

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Pavle Matak

http://www.w3.org/2001/XMLSchema#string

Tahir N Khan

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A systematic approach to mapping recessive disease genes in individuals from outbred populations

The Ciliopathies: An Emerging Class of Human Genetic Disorders

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

TMEM165 deficiency causes a congenital disorder of glycosylation

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

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666-675

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10.1016/J.AJHG.2017.02.007

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English

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100

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Asaf Vivante

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2017-03-11T00:00:00Z

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

about

P2860

P2860

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

description

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type

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P1433

P1476

P2093

P2860

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P356

P407

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P50

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P932