American Journal of Medical Genetics 136A:225 (2005) Erratum Gonadal Mosaicism in Severe Pallister–Hall Syndrome (Am J Med Genet 124A: 296–302 (2004)) David Ng, 1 * Jennifer J. Johnston, 1 Joyce T. Turner, 1 Eilis A. Boudreau, 2 Edythe A. Wiggs, 3 William H. Theodore, 2 and Leslie G. Biesecker 1 1 Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 2 Epilepsy Research Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 3 Consultant, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland In the above noted manuscript, the mutation was erroneously described as c.3385_3386delTT. It should have been described as c.3386_3387delTT. While both designations describe the deletion of two thymidine residues within a string of three thymidines, the mutation nomenclature [den Dunnen and Antonarakis, 2001] speciﬁes that the 3 0 most of a string of repetitive nucleotides should be designated as the deletion. In addition, in the Materials and Methods section the GenBank reference number for GLI3 was erroneously listed as NM_00168. It should have been NM_000168. The authors regret these errors. REFERENCE den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121 – 124. *Correspondence to: David Ng, NIH-NCI, 6120 Executive Blvd., Room 7005, Rockville, MD 20852. E-mail: [email protected] DOI 10.1002/ajmg.a.30738 ß 2005 Wiley-Liss, Inc.

Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)

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Page 1: Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)

American Journal of Medical Genetics 136A:225 (2005)

ErratumGonadal Mosaicism in Severe Pallister–Hall Syndrome(Am J Med Genet 124A: 296–302 (2004))

David Ng,1* Jennifer J. Johnston,1 Joyce T. Turner,1 Eilis A. Boudreau,2 Edythe A. Wiggs,3

William H. Theodore,2 and Leslie G. Biesecker1

1Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland2Epilepsy Research Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland3Consultant, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland

In the above noted manuscript, the mutation was erro-neously described as c.3385_3386delTT. It should have beendescribed as c.3386_3387delTT. While both designationsdescribe the deletion of two thymidine residues within a stringof three thymidines, the mutation nomenclature [den Dunnenand Antonarakis, 2001] specifies that the 30 most of a stringof repetitive nucleotides should be designated as the dele-tion. In addition, in the Materials and Methods section the

GenBank reference number forGLI3was erroneously listed asNM_00168. It should have been NM_000168.

The authors regret these errors.

REFERENCE

den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description ofhuman sequence variations. Hum Genet 109:121–124.

*Correspondence to: David Ng, NIH-NCI, 6120 Executive Blvd.,Room 7005, Rockville, MD 20852.E-mail: [email protected]

DOI 10.1002/ajmg.a.30738

� 2005 Wiley-Liss, Inc.