Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

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description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

@zh-cn

2011年学术文章

@zh-hans

2011年学术文章

@zh-my

2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Short stature due to 15q26 mic ...... and review of the literature.

@en

Short stature due to 15q26 mic ...... and review of the literature.

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type

Item

label

Short stature due to 15q26 mic ...... and review of the literature.

@en

Short stature due to 15q26 mic ...... and review of the literature.

@nl

prefLabel

Short stature due to 15q26 mic ...... and review of the literature.

@en

Short stature due to 15q26 mic ...... and review of the literature.

@nl

P1476

Short stature due to 15q26 mic ...... and review of the literature.

@en

P2093

Christopher P Barnett

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Drago Bratkovic

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Jillian K Nicholl

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Laura I Rudaks

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P2860

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene.

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature.

Terminal deletion of chromosome 15q26.1: case report and brief literature review.

Two patients with ring chromosome 15 syndrome.

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.

P304

3139-3143

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scholarly article

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10.1002/AJMG.A.34310

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English

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P478

155A

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P577

2011-11-07T00:00:00Z

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P698

22065603

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