TY - JOUR
T1 - Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
AU - Watanabe, Keisuke
AU - Noguchi, Atsuko
AU - Takahashi, Ikuko
AU - Yamada, Mamiko
AU - Suzuki, Hisato
AU - Takenouchi, Toshiki
AU - Kosaki, Kenjiro
AU - Takahashi, Tsutomu
N1 - Funding Information:
We thank the patient and his parents, whose help and participation made this work possible. This work was supported by the Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development, Grant Number JP21ek0109549..
Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.
AB - Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.
UR - http://www.scopus.com/inward/record.url?scp=85132072684&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85132072684&partnerID=8YFLogxK
U2 - 10.1038/s41439-022-00196-8
DO - 10.1038/s41439-022-00196-8
M3 - Article
AN - SCOPUS:85132072684
SN - 2054-345X
VL - 9
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 23
ER -