Concepedia

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)

Patrick Callier, Laurence Faivre, Nathalie Marle, Christel Thauvin‐Robinet, A.L. Mosca, Alice Masurel‐Paulet, J. Borgnon, Sylvie Falcon‐Eicher, A. Danino, G. Malka,

European Journal of Medical Genetics · 2007 · 11 citations · 27 references

DOI

Concepts

References

27

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Dorothy Warburton · PubMed · 1991 · 680 citations

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Growth Hormone and Bone

Claes Ohlsson · Endocrine Reviews · 1998 · 345 citations

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Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Kalotina Machinis, Jacques Pantel, Irène Netchine et al. · The American Journal of Human Genetics · 2001 · 274 citations · Full text

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

Susan Gribble · Journal of Medical Genetics · 2005 · 216 citations · Full text

, , +17

High resolution comparative genomic hybridisation in clinical cytogenetics

Maria Kirchhoff · Journal of Medical Genetics · 2001 · 197 citations · Full text

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