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A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.

作者信息

Lenz W D, Majewski F

出版信息

Birth Defects Orig Artic Ser. 1974;10(12):133-6.

PMID:4376705
Abstract
摘要

相似文献

1
A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.
Birth Defects Orig Artic Ser. 1974;10(12):133-6.
2
[Course of diaphyseal dysplasia. Camurati-Engelmann disease followed for 14 years].[骨干发育异常病程。随访14年的卡姆拉蒂-恩格尔曼病]
J Radiol. 1983 Dec;64(12):675-9.
3
[Hydrocephalus and craniodiaphyseal dysplasia (author's transl)].
Radiol Med. 1979 Apr;65(4):249-52.
4
Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report.
J Neurosurg. 1978 Jan;48(1):138-42. doi: 10.3171/jns.1978.48.1.0138.
5
[Camurati-Engelmann disease (clinico-radiological contribution and chromosome study)].[卡姆拉蒂-恩格尔曼病（临床放射学贡献及染色体研究）]
Pediatria (Napoli). 1975 Mar 31;83(1):1-19.
6
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification.
Birth Defects Orig Artic Ser. 1974;10(5):23-53.
7
[A case of craniodiaphyseal dysplasia].[一例颅骨骨干发育异常病例]
No To Hattatsu. 1989 Jan;21(1):69-73.
8
[Unusual case of hyperostosis of the type "cranio-diaphyseal dysplasia"].["颅骨干发育异常型骨肥厚的罕见病例"]
Minerva Pediatr. 1977 Jul 14;29(23):1485-97.
9
[Value of various radiological study results in the follow-up of Camurati-Engelmann disease].
Rofo. 1987 Sep;147(3):278-82. doi: 10.1055/s-2008-1048639.
10
[Camurati-Engelmann syndrome in a 10-year-old girl].[一名10岁女孩的卡姆拉蒂-恩格尔曼综合征]
Pediatr Pol. 1981;56(4):437-41.

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Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.伴有PTDSS1变异的Lenz-Majewski综合征的临床和遗传学特征：病例报告及文献综述
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A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.
一例携带新型PTDSS1变异的日本Lenz-Majewski综合征病例。
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Phosphatidylserine enrichment in the nuclear membrane regulates key enzymes of phosphatidylcholine synthesis.核膜中磷脂酰丝氨酸的富集调节了磷脂酰胆碱合成的关键酶。
EMBO J. 2024 Aug;43(16):3414-3449. doi: 10.1038/s44318-024-00151-z. Epub 2024 Jun 25.
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Front Cell Dev Biol. 2021 Jun 24;9:664788. doi: 10.3389/fcell.2021.664788. eCollection 2021.
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J Rare Dis Res Treat. 2016;2(1):47-51. doi: 10.29245/2572-9411/2017/1.1080. Epub 2016 Dec 29.
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Identification of Chloride Intracellular Channel Protein 3 as a Novel Gene Affecting Human Bone Formation.鉴定氯离子细胞内通道蛋白3为影响人类骨形成的新基因。
JBMR Plus. 2017 Apr 28;1(1):16-26. doi: 10.1002/jbm4.10003. eCollection 2017 Aug.
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Historical perspective: phosphatidylserine and phosphatidylethanolamine from the 1800s to the present.历史视角：从 19 世纪至今的磷脂酰丝氨酸和磷脂酰乙醇胺。
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