Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni; Melissa Andrew; Leah Tyzinski; Melissa Crocker; Jessica Douglas; Nancy Dunbar; Jan Fairchild; Mariana F. A. Funari; Karen E. Heath; Alexander A. L. Jorge; Tracey Kurtzman; Stephen LaFranchi; Seema Lalani; Jan Lebl; Yuezhen Lin; Evan Los; Dorothee Newbern; Catherine Nowak; Micah Olson; Jadranka Popovic; ?těp#225; nka Pr?hov#225; Lenka Elblova; Jose Bernardo Quintos; Emma Segerlund; Lucia Sentchordi; Marwan Shinawi; Eva-Lena Stattin; Jonathan Swartz; Ariadna Gonz#225; lez del Angel; Sinhu#233; Diaz Cu#233; llar; Hidekazu Hosono; Pedro A. Sanchez-Lara; Vivian Hwa; Jeffrey Baron; Ola Nilsson; Andrew Dauber

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Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

机译：Aggrecan突变导致常染色体显性矮身材患者的临床特征

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AbstractContext:Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation.

机译：摘要背景：聚集蛋白聚糖基因（ACAN）中的杂合突变会导致常染色体显性矮小身材，并加速骨骼成熟。

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《The journal of clinical endocrinology and metabolism》 |2017年第2期|共10页
作者
Alexandra Gkourogianni; Melissa Andrew; Leah Tyzinski; Melissa Crocker; Jessica Douglas; Nancy Dunbar; Jan Fairchild; Mariana F. A. Funari; Karen E. Heath; Alexander A. L. Jorge; Tracey Kurtzman; Stephen LaFranchi; Seema Lalani; Jan Lebl; Yuezhen Lin; Evan Los; Dorothee Newbern; Catherine Nowak; Micah Olson; Jadranka Popovic; ?těp#225; nka Pr?hov#225; Lenka Elblova; Jose Bernardo Quintos; Emma Segerlund; Lucia Sentchordi; Marwan Shinawi; Eva-Lena Stattin; Jonathan Swartz; Ariadna Gonz#225; lez del Angel; Sinhu#233; Diaz Cu#233; llar; Hidekazu Hosono; Pedro A. Sanchez-Lara; Vivian Hwa; Jeffrey Baron; Ola Nilsson; Andrew Dauber;
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1. Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation [J] . Christina Tatsi, Alexandra Gkourogianni, Klaus Mohnike, Journal of the Endocrine Society. . 2017,第8期

机译：非血管矮小状态和矮小的骨膜突变而没有加速骨骼成熟
2. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature [J] . Hisado-Oliva Alfonso, Ruzafa-Martin Alba, Sentchordi Lucia, Genetics in medicine . 2018,第1期

机译：C-钠尿肽（NPPC）中的突变：常染色体显性矮小地位的新颖原因
3. A novel familial autosomal dominant mutation in ARID1B ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features [J] . Smith Joshua A., Holden Kenton R., Friez Michael J., American journal of medical genetics, Part A . 2016,第12期

机译：ARID1B ARID1B中的一种新颖的常染色体显性突变，导致神经发育延迟，矮小和疑难术特征
4. Detection and Segmentation of Kidneys from Magnetic Resonance Images in Patients with Autosomal Dominant Polycystic Kidney Disease [C] . Antonio Brunetti, Giacomo Donato Cascarano, Irio De Feudis, International conference on intelligent computing . 2019

机译：常染色体显性多囊性肾脏病患者的磁共振图像肾脏检测与分割
5. Investigating the pathogenicity of mutations in two ubiquitously expressed housekeeping genes that cause autosomal dominant retinitis pigmentosa. [D] . Spellicy, Catherine Jean. 2009

机译：调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
6. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [O] . Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, -1

机译：Aggrecan突变导致常染色体显性矮身材患者的临床特征
7. Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation [O] . Christina Tatsi, Alexandra Gkourogianni, Klaus Mohnike, 2017

机译：非血管矮小状态和矮小的骨膜突变而没有加速骨骼成熟

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

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