A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2

Ana M. Zarante-Bahamon, María C. Cortés-Rojas, Jorge L. Ramon-Gómez

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title = "A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2",

author = "Zarante-Bahamon, {Ana M.} and Cort{\'e}s-Rojas, {Mar{\'i}a C.} and Ramon-G{\'o}mez, {Jorge L.}",

year = "2025",

doi = "10.1097/MCD.0000000000000522",

language = "English",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

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T1 - A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2

AU - Zarante-Bahamon, Ana M.

AU - Cortés-Rojas, María C.

AU - Ramon-Gómez, Jorge L.

PY - 2025

Y1 - 2025

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DO - 10.1097/MCD.0000000000000522

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SN - 0962-8827

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

M1 - 10.1097/MCD.0000000000000522

ER -