Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Walters, Michelle E; Lacassie, Yves; Azamian, Mahshid; Franciskovich, Rachel; Zapata, Gladys; Hernandez, Patricia P; Liu, Pengfei; Campbell, Ian M; Bostwick, Bret L; Lalani, Seema R

Walters, Michelle E; Lacassie, Yves; Azamian, Mahshid; Franciskovich, Rachel; Zapata, Gladys; Hernandez, Patricia P; Liu, Pengfei; Campbell, Ian M; Bostwick, Bret L; Lalani, Seema R.

Affiliation

Walters ME; Division of Dermatology, Harbor-UCLA Medical Center, Torrance, California, USA.
Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana, USA.
Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Liu P; Baylor Genetics, Houston, Texas, USA.
Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Bostwick BL; Baylor Genetics, Houston, Texas, USA.
Lalani SR; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Am J Med Genet A ; 185(3): 916-922, 2021 03.

Article de En | MEDLINE | ID: mdl-33369125

Sujet(s)
Mots clés

ALX4; Saethre-Chotzen syndrome; TWIST1; cranial ossification defect; enlarged parietal foramina

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ostéogenèse / Crâne / Facteurs de transcription / Malformations multiples / Acrocéphalosyndactylie / Protéines nucléaires / Mutation avec décalage du cadre de lecture / Mutation faux-sens / Protéines de liaison à l'ADN / Protéine-1 apparentée à Twist Type d'étude: Diagnostic_studies Limites: Adult / Female / Humans / Male / Newborn / Pregnancy Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique

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