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Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
Am J Med Genet A. 2020 06; 182(6):1473-1476.AJ

Abstract

Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.

Authors+Show Affiliations

Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.Department of Medical Genetics, Universidade Metropolitana de Santos, Sao Paulo, Brazil.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32196970

Citation

Cavole, Thiago R., et al. "Clinical, Molecular, and Pathological Findings in a Neu-Laxova Syndrome Stillborn: a Brazilian Case Report." American Journal of Medical Genetics. Part A, vol. 182, no. 6, 2020, pp. 1473-1476.
Cavole TR, Perrone E, Lucena de Castro FSC, et al. Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report. Am J Med Genet A. 2020;182(6):1473-1476.
Cavole, T. R., Perrone, E., Lucena de Castro, F. S. C., Alvarez Perez, A. B., Waitzberg, A. F. L., & Cernach, M. C. S. P. (2020). Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report. American Journal of Medical Genetics. Part A, 182(6), 1473-1476. https://doi.org/10.1002/ajmg.a.61559
Cavole TR, et al. Clinical, Molecular, and Pathological Findings in a Neu-Laxova Syndrome Stillborn: a Brazilian Case Report. Am J Med Genet A. 2020;182(6):1473-1476. PubMed PMID: 32196970.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report. AU - Cavole,Thiago R, AU - Perrone,Eduardo, AU - Lucena de Castro,Felipe S C, AU - Alvarez Perez,Ana B, AU - Waitzberg,Angela Flávia L, AU - Cernach,Mirlene C S P, Y1 - 2020/03/20/ PY - 2019/10/28/received PY - 2020/02/27/revised PY - 2020/02/28/accepted PY - 2020/3/21/pubmed PY - 2021/1/29/medline PY - 2020/3/21/entrez KW - PHGDH KW - PSAT1 KW - PSP KW - Neu-Laxova KW - serine SP - 1473 EP - 1476 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 182 IS - 6 N2 - Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/32196970/Clinical_molecular_and_pathological_findings_in_a_Neu_Laxova_syndrome_stillborn:_A_Brazilian_case_report_ L2 - https://doi.org/10.1002/ajmg.a.61559 DB - PRIME DP - Unbound Medicine ER -