The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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Okamoto syndrome has features overlapping with Au–Kline syndrome
Multiple endocrine neoplasia type 2 (MEN2) and RET specific
Community‐based recruitment and exome sequencing indicates high
The missing link between genetic association and regulatory
The novel and recurrent variants in exon 31 of CREBBP in Japanese
The novel and recurrent variants in exon 31 of CREBBP in Japanese
TTC5 syndrome: Clinical and molecular spectrum of a severe and
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
Frontiers Case Report: Exome and RNA Sequencing Identify a Novel
The novel and recurrent variants in exon 31 of CREBBP in Japanese
The novel and recurrent variants in exon 31 of CREBBP in Japanese
PDF) TTC5 syndrome: Clinical and molecular spectrum of a severe
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