SOPH SYNDROME: MULTISYSTEM DISORDER LEADING TO INFANTILE LIVER FAILURE, PELGER-HUET ANOMALY, DYSMORPHIC FEATURES AND SKELETAL DYSPLASIA

Yadav Aditi; Hopkin Robert J.; Schorry Elizabeth K.

首页> 外文期刊>American journal of medical genetics, Part A >SOPH SYNDROME: MULTISYSTEM DISORDER LEADING TO INFANTILE LIVER FAILURE, PELGER-HUET ANOMALY, DYSMORPHIC FEATURES AND SKELETAL DYSPLASIA

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SOPH SYNDROME: MULTISYSTEM DISORDER LEADING TO INFANTILE LIVER FAILURE, PELGER-HUET ANOMALY, DYSMORPHIC FEATURES AND SKELETAL DYSPLASIA

机译：Soph综合征：通往婴儿肝功能衰竭的多系统障碍，Pelger-hyet异常，疑难垂特征和骨骼发育不良

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《American journal of medical genetics, Part A》 |2018年第6期|共2页
作者
Yadav Aditi; Hopkin Robert J.; Schorry Elizabeth K.;
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作者单位

Cincinnati Childrens Hosp Med Ctr Cincinnati OH 45229 USA;

Cincinnati Childrens Hosp Med Ctr Cincinnati OH 45229 USA;

Cincinnati Childrens Hosp Med Ctr Cincinnati OH 45229 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. SOPH SYNDROME: MULTISYSTEM DISORDER LEADING TO INFANTILE LIVER FAILURE, PELGER-HUET ANOMALY, DYSMORPHIC FEATURES AND SKELETAL DYSPLASIA [J] . Yadav Aditi, Hopkin Robert J., Schorry Elizabeth K. American journal of medical genetics, Part A . 2018,第6期

机译：Soph综合征：通往婴儿肝功能衰竭的多系统障碍，Pelger-hyet异常，疑难垂特征和骨骼发育不良
2. A homozygous variant in the Lamin B receptor gene LBR results in a nonlethal skeletal dysplasia without Pelger-Huet anomaly [J] . Collins Meagan, Miranda Valancy, Rousseau Justine, Bone . 2020,第1期

机译：Lamin B受体基因LBR中的纯合变种导致没有脓疱的异常的非体育骨骼发育不良
3. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy , dysmorphic features, and hepatic dysfunction [J] . Anzai Rie, Tsuji Megumi, Yamashita Sumimasa, Brain & Development . 2021,第3期

机译：先天性糖基化型IIB与沼泽突变的疾病导致早期婴儿癫痫脑病，疑难症特征和肝功能障碍
4. Metabolic Disorders in Laying Hens -Fatty Liver Syndrome and Skeletal Didoders [C] . Steve Leeson International Conference on Avian Nutritional and Metabolic Disorders; 20060414-17; Nanjing(CN) . 2006

机译：产蛋鸡脂肪肝综合症和骨骼二恶英的代谢异常
5. A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder. [O] . N Elçioglu, C M Hall 1998

机译：具有点状软骨发育不良和成骨不全特征的致死性骨骼发育不良：Astley-Kendall发育不良的一个例子。进一步描述一种罕见的遗传疾病。
6. A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder. [O] . Elçioglu, N, Hall, C M 1998

机译：具有点状软骨发育不良和成骨不全特征的致死性骨骼发育不良：Astley-Kendall发育不良的一个例子。进一步描述一种罕见的遗传疾病。

SOPH SYNDROME: MULTISYSTEM DISORDER LEADING TO INFANTILE LIVER FAILURE, PELGER-HUET ANOMALY, DYSMORPHIC FEATURES AND SKELETAL DYSPLASIA

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