Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

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Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

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Q36700817-40D8626B-72CC-4937-ADCA-7545F7D88A82

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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@en

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@nl

type

Item

label

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@en

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@nl

prefLabel

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@en

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@nl

P1476

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

@en

P2093

Andrea Bevot

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

Andreas Tzschach

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

Anna Jauch

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

Karin Schäferhoff

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

Martin Kehrer

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

Michael Bonin

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Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia

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2406-2410

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scholarly article

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10.1002/AJMG.A.37178

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English

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167A

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2015-06-10T00:00:00Z

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26061568

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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

about

P2860

P2860

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698