@article{5cede563102346d4ba8bd4055c4bc019,
title = "Unusual St{\"u}ve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy",
abstract = "A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in St{\"u}ve-Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the LIFR mutation. The presentation was typical for STWS, except there was no long bone dysplasia. Prominent cold-induced sweating and heat intolerance lead to an initial diagnosis of cold-induced sweating syndrome, excluded by exome sequencing. Skin biopsies provide the first human evidence of failed postnatal cholinergic differentiation of sympathetic neurons innervating sweat glands in cold-induced sweating, and of a neuropathy.",
author = "Melone, {Mariarosa A.B.} and Pellegrino, {Michael J.} and Maria Nolano and Habecker, {Beth A.} and Stefan Johansson and Nathanson, {Neil M.} and Knappskog, {Per M.} and Hahn, {Angelika F.} and Helge Boman",
note = "Funding Information: The study was supported in part through National Institutes of Health grant HL068231 to Professor Dr. Beth Habecker, PhD. Funding Information: The authors gratefully acknowledge the contribution of the following participating investigators: Francesca Calif-ano, M.D. and Carla Schettino, M.D. who provided and cared for the study patient; Vincenzo Provitera, M.D. and Giuseppe Caporaso BS who participated in the autonomic testing and the morphological studies. Sigrid Erdal, Trude H{\o}ys{\ae}ter, and Jorunn S. Bringsli provided expert technical assistance. Cell transfection experiments and functional studies of the LIFR mutant were supported by the National Institutes of Health grant HL068231 to Professor Beth Habecker, Ph.D.",
year = "2014",
month = nov,
doi = "10.1002/acn3.126",
language = "English (US)",
volume = "1",
pages = "926--932",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "11",
}