(Q30439033)

22 August 2017

0 references

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies (English)

1 reference

22 August 2017

1 reference

1

1 reference

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1 June 2020

Giuseppe Pacileo

2

1 reference

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1 June 2020

Giuseppe Limongelli

3

1 reference

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1 June 2020

Giulio Piluso

6

1 reference

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1 June 2020

Mario Cirillo

8

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1 June 2020

Silverio Perrotta

10

1 reference

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1 June 2020

author name string

Saverio Scianguetta

4

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1 June 2020

Teresa Giugliano

5

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1 June 2020

Fulvio Della Ragione

7

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1 June 2020

Giuseppe Mirone

9

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1 June 2020

publication date

26 April 2014

1 reference

22 August 2017

1 reference

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1 June 2020

volume

15

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1 June 2020

page(s)

44

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https://scigraph.springernature.com/pub.10.1186/1471-2350-15-44

1 June 2020

exact match

0 references

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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

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NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

21 January 2018

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PTPN11 mutations in LEOPARD syndrome

21 January 2018

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Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

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Clinical and molecular studies in a large Dutch family with Noonan syndrome

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Identifiers

DOI

10.1186/1471-2350-15-44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24767283%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24767283%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

24767283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24767283%20AND%20SRC:MED&resulttype=core&format=json