Concepedia

Mutation of PACS1: the milder end of the spectrum

Antonio Federico Martínez‐Monseny, Mercè Bolasell, César Arjona, Loreto Martorell, Dèlia Yubero, Judith Arsmtrong, Joan Maynou, Guerau Fernández, María del Carmen Salgado, Francesc Palau,

Clinical Dysmorphology · 2018 · 20 citations · 3 references

DOI

Concepts

Abstract

Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; Martorell, Loreto; Yubero, Delia; Arsmtrong, Judith; Maynou, Joan; Fernandez, Guerau; del Carmen Salgado, Maria; Palau, Francesc; Serrano, Mercedes Author Information

References

3

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers et al. · The American Journal of Human Genetics · 2012 · 133 citations · Full text

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A PACS‐1, GGA3 and CK2 complex regulates CI‐MPR trafficking

Gregory K. Scott, Fei Hao, Laurel Thomas et al. · The EMBO Journal · 2006 · 88 citations · Full text

, , +7

Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients

Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds et al. · American Journal of Medical Genetics Part A · 2016 · 59 citations · Full text

, , +16