Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Author:

Sousa Sérgio B,Jenkins Dagan,Chanudet Estelle,Tasseva Guergana,Ishida Miho,Anderson Glenn,Docker James,Ryten Mina,Sa Joaquim,Saraiva Jorge M,Barnicoat Angela,Scott Richard,Calder Alistair,Wattanasirichaigoon Duangrurdee,Chrzanowska Krystyna,Simandlová Martina,Van Maldergem Lionel,Stanier Philip,Beales Philip L,Vance Jean E,Moore Gudrun E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference49 articles.

1. Braham, R.L. Multiple congenital abnormalities with diaphyseal dysplasia (Ca murati-Engelmann's syndrome). Report of a case. Oral Surg. Oral Med. Oral Pathol. 27, 20–26 (1969).

2. Macpherson, R.I. Craniodiaphyseal dysplasia, a disease or group of diseases? J. Can. Assoc. Radiol. 25, 22–33 (1974).

3. Kaye, C.I., Fisher, D.E. & Esterly, N.B. Cutis laxa, skeletal anomalies, and ambiguous genitalia. Am. J. Dis. Child. 127, 115–117 (1974).

4. Lenz, W.D. & Majewski, F. A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis. Birth Defects Orig. Artic. Ser. 10, 133–136 (1974).

5. Majewski, F. Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient. Am. J. Med. Genet. 93, 335–338 (2000).

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