Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

Jack Goldblatt; J. Hyatt; C. Edwards; I. Walpole

doi:10.1002/ajmg.a.33906

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

Jack Goldblatt, J. Hyatt, C. Edwards, I. Walpole

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

Original language	English
Pages (from-to)	717-720
Journal	American Journal of Medical Genetics Part A
Volume	155
DOIs	https://doi.org/10.1002/ajmg.a.33906
Publication status	Published - 2011

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10.1002/ajmg.a.33906

Cite this

@article{948ced5e36144143a405aadab944a5bd,

title = "Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene",

author = "Jack Goldblatt and J. Hyatt and C. Edwards and I. Walpole",

year = "2011",

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language = "English",

volume = "155",

pages = "717--720",

journal = "Am J Med Genet A",

issn = "0148-7299",

publisher = "Wiley-Liss",

}

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. / Goldblatt, Jack; Hyatt, J.; Edwards, C.; Walpole, I.

In: American Journal of Medical Genetics Part A, Vol. 155, 2011, p. 717-720.

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

TY - JOUR

T1 - Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

AU - Goldblatt, Jack

AU - Hyatt, J.

AU - Edwards, C.

AU - Walpole, I.

PY - 2011

Y1 - 2011

U2 - 10.1002/ajmg.a.33906

DO - 10.1002/ajmg.a.33906

M3 - Article

C2 - 21594992

VL - 155

SP - 717

EP - 720

JO - Am J Med Genet A

JF - Am J Med Genet A

SN - 0148-7299

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