Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia-Reference-Cited by-同舟云学术

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Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia

Published:2005 Issue:1 Volume:138A Page:11-17
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Stankiewicz Paweł,Thiele Hannelore,Schlicker Mike,Cseke-Friedrich Andrea,Bartel-Friedrich Sylva,Yatsenko Svetlana A.,Lupski James R.,Hansmann Ingo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype

2. Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

3. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

4. Putting language genes in perspective

Cited by 37 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up;BMC Medical Genomics;2022-02-03

2. Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome;Frontiers in Pediatrics;2021-02-02

3. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity;European Journal of Endocrinology;2020-12

4. Congenital hypopituitarism in two brothers with a duplication of the ‘acrogigantism gene’ GPR101: clinical findings and review of the literature;Pituitary;2020-11-13

5. SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects;Prenatal Diagnosis;2019-08-09

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