Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)-Reference-Cited by-同舟云学术

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Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)

Published:2014-05-12 Issue:8 Volume:164 Page:2079-2083
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mendelsohn Bryce A.¹,Pronold Melissa²,Long Roger³,Smaoui Nizar⁴,Slavotinek Anne M.¹

Affiliation:

1. Division of Genetics; Department of Pediatrics; University of California San Francisco; San Francisco California

2. Department of Laboratory Medicine; University of California San Francisco; San Francisco California

3. Division of Endocrinology; Department of Pediatrics; University of California San Francisco; San Francisco California

4. GeneDx, Inc.; Gaithersburg Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Familial hypertrichosis cubiti: Hairy elbows syndrome;Beighton;J Med Genet,1970

2. Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome;Chen;Taiwan J Obstet Gynecol,2012

3. Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case;Chen;Am J Med Genet,1993

4. RADIOGRAPHIC ATLAS OF SKELETAL DEVELOPMENT OF THE HAND AND WRIST

5. De novo mutations in MLL cause Wiedemann-Steiner syndrome;Jones;Am J Hum Genet,2012

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1. Editorial: Stars and rising stars in pediatric endocrinology: 2022;Frontiers in Endocrinology;2024-03-18

2. A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome;Molecular Cytogenetics;2023-08-30

3. Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome;Frontiers in Genetics;2023-03-21

4. Wiedemann–Steiner Syndrome: Case Report and Review of Literature;Children;2022-10-12

5. Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome;Frontiers in Endocrinology;2022-10-03

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