Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
about
Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutationShort stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone.Allogeneic bone marrow transplantation restores IGF-I production and linear growth in a gamma-SCID patient with abnormal growth hormone receptor signaling.Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.
P2860
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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name
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@en
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@nl
type
label
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@en
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@nl
prefLabel
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@en
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@nl
P2093
P2860
P1476
Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
@en
P2093
Ambrosio R
Apicella AJ
Gaetaniello L
Matrecano E
Salerno MC
P2860
P304
P356
10.1046/J.1365-2249.2002.01823.X
P577
2002-09-01T00:00:00Z