Data Reports

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

• Natsuko Inagaki
• Tomoya Okano
• Kazuhiro Satomi

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

• Hiroki Tanabe
• Masami Ijiri
• Toshikatsu Okumura

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

• Shintaro Nakamura
• Kyosuke Ibi
• Takanobu Inoue

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome

• Hasan Azizi
• Mortaza Bonyadi
• Abbas Rafat

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

• Naoko Nakatani
• Akihiro Tamura
• Yoshiyuki Kosaka

BARD1 deletion in a patient with suspected hereditary colorectal cancer

• Nobue Takaiso
• Issei Imoto
• Yasuhiro Shimizu

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

• Nozomu Kishio
• Kazuhiro Iwama
• Shuichi Ito

Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

• Rei Takada
• Takenori Tozawa
• Tomohiro Chiyonobu

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

• Hiromi Nyuzuki
• Junichi Ozawa
• Takeshi Ikeuchi

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

• Mina Nakama
• Yuki Miwa
• Hidenori Ohnishi

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

• Michiyo Ando
• Yoshihiko Aoki
• Yoshihito Tokita

A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

• Ivan Šubrt
• Tomáš Zavoral
• Jitka Tejcová

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

• Shiroh Miura
• Emina Watanabe
• Hiroki Shibata

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

• Rina Shimomura
• Tomoe Yanagishita
• Toshiyuki Yamamoto

A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression

• Sachi Tokunaga
• Hideki Shimomura
• Yasuhiro Takeshima

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1

• Kazuki Watanabe
• Kazuo Kubota
• Hirotomo Saitsu

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

• Yo Niida
• Azusa Kobayashi
• Hiroki Ura

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

• Takahito Moriwaki
• Mitsuo Masuno
• Takanobu Otomo

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

• Parisa Mashayekhi
• Mir Davood Omrani
• Ali Dehghanifard

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

• Yoshihiko Kodama
• Satoru Meiri
• Hiroshi Moritake