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

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@article{7967d2ebae024b8ba3fccba20943f6e5,

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",

month = jul,

day = "1",

doi = "10.1097/MCD.0000000000000522",

language = "English",

volume = "34",

pages = "68--70",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

number = "3",

}

TY - JOUR

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 - 2025/7/1

Y1 - 2025/7/1

UR - https://www.scopus.com/pages/publications/105002695323

U2 - 10.1097/MCD.0000000000000522

DO - 10.1097/MCD.0000000000000522

M3 - Article

C2 - 40073204

AN - SCOPUS:105002695323

SN - 0962-8827

VL - 34

SP - 68

EP - 70

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 3

ER -