Severe Shwachman-Diamond syndrome and associated CF carrier mutations

Fauziya Hassan; Craig Byersdorfer; Samya Nasr

doi:10.1016/j.rmedc.2009.02.001

Severe Shwachman-Diamond syndrome and associated CF carrier mutations

Fauziya Hassan
, Craig Byersdorfer
, Samya Nasr

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.

Original language	English (US)
Pages (from-to)	18-19
Number of pages	2
Journal	Respiratory Medicine CME
Volume	3
Issue number	1
DOIs	https://doi.org/10.1016/j.rmedc.2009.02.001
State	Published - 2010
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Cystic fibrosis
Shwachman-Diamond syndrome Carriers

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10.1016/j.rmedc.2009.02.001

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@article{0e1eb81e0c4a46d7b871dcc732df8ed7,

title = "Severe Shwachman-Diamond syndrome and associated CF carrier mutations",

abstract = "Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.",

keywords = "Cystic fibrosis, Shwachman-Diamond syndrome Carriers",

author = "Fauziya Hassan and Craig Byersdorfer and Samya Nasr",

year = "2010",

doi = "10.1016/j.rmedc.2009.02.001",

language = "English (US)",

volume = "3",

pages = "18--19",

journal = "Respiratory Medicine CME",

issn = "1755-0017",

publisher = "W.B. Saunders Ltd",

number = "1",

}

TY - JOUR

T1 - Severe Shwachman-Diamond syndrome and associated CF carrier mutations

AU - Hassan, Fauziya

AU - Byersdorfer, Craig

AU - Nasr, Samya

PY - 2010

Y1 - 2010

N2 - Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.

AB - Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.

KW - Cystic fibrosis

KW - Shwachman-Diamond syndrome Carriers

UR - https://www.scopus.com/pages/publications/77649340218

UR - https://www.scopus.com/pages/publications/77649340218#tab=citedBy

U2 - 10.1016/j.rmedc.2009.02.001

DO - 10.1016/j.rmedc.2009.02.001

M3 - Article

AN - SCOPUS:77649340218

SN - 1755-0017

VL - 3

SP - 18

EP - 19

JO - Respiratory Medicine CME

JF - Respiratory Medicine CME

IS - 1

ER -

Severe Shwachman-Diamond syndrome and associated CF carrier mutations

Abstract

UN SDGs

Keywords

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